Kidney Disease and Urinary Tract Disorders Sourcebook, 3rd Ed.

Preface

ABOUT THIS BOOK

Millions of Americans experience difficulties involving the kidneys, ureters, bladder, and urethra—the components of the urinary system. Problems can be caused by illness, injury, genetics, or aging and include disorders such as urinary incontinence, urinary tract infections and cancers, kidney stones, and kidney failure. According to the Centers for Disease Control and Prevention (CDC), about 37 million U.S. adults are estimated to have chronic kidney disease (CKD), and most of them do not know they have it. Although kidney disease and urinary tract disorders can have a significant impact on a person’s physical, emotional, and social well-being, recent medical advances offer the promise of more effective treatments and they provide the means by which those affected can learn to cope more successfully with related challenges. Additionally, by understanding the risk factors associated with these types of disorders, people can make lifestyle adjustments and take preventive measures to preserve urological health.

Kidney Disease and Urinary Tract Disorders Sourcebook, Third Edition provides information about the vital organs of the urinary system and explains how they work. It talks about the causes, symptoms, diagnosis, and treatment of various problems that impact the kidney and urinary system, including acute kidney injury, bladder stones, chronic kidney disease, kidney cysts, kidney stones, solitary kidney, urethral stricture, urinary tract infections (UTIs), and so on. It also discusses the genetic and congenital disorders along with the cancers that affect the kidneys and urinary tract. Various diagnostic tests such as creatinine test, blood urea nitrogen test, cystatin marker test, kidney biopsy, renal panel test, urine test, and urinary tract imaging that are used to detect kidney disease are also discussed in detail. It explains the treatments used to replace lost kidney function such as hemodialysis, peritoneal dialysis, and kidney transplantation. Information about Medicare coverage available for dialysis and kidney transplant service is also provided. The book concludes with a glossary of related terms, and a directory of additional resources that provide help and information to patients with kidney disease and urinary tract disorders.

HOW TO USE THIS BOOK

This book is divided into parts and chapters. Parts focus on broad areas of interest. Chapters are devoted to single topics within a part.

Part 1: Understanding the Urinary System provides information about the vital organs of the urinary system and explains how they work. It talks about risk factors for kidney disease and provides statistical data on the prevalence of kidney disease in the United States.

Part 2: Acute and Chronic Kidney Diseases focuses on diseases and disorders affecting the kidneys, including acute kidney injury, chronic kidney disease, kidney cysts, renal artery stenosis, and diabetes insipidus. Kidney diseases that affect children are also explained in detail along with the information about immune disorders of kidney.

Part 3: Diagnostic Tests for Kidney Disease provides information about various tests used to diagnose kidney disease such as creatinine test, blood urea nitrogen test, cystatin marker test, kidney biopsy, renal panel test, urine test, and urinary tract imaging.

Part 4: Disorders of the Urinary Tract provides an overview about urinary tract infections (UTIs) and explains how they can affect adults, children, and pregnant women. Facts about novel treatment approach and complementary therapy for UTI are also provided. It provides information about various other disorders of the urinary tract such as solitary kidney, glomerular diseases, amyloidosis, urethral stricture, and so on. The congenital defects of the urinary tract and genitals are also explained.

Part 5: Disorders of the Bladder pays particular attention to problems of the bladder including bladder stones, urinary incontinence, urinary retention, interstitial cystitis, etc. Symptoms, diagnostic tests, and available treatments are discussed.

Part 6: Genetic and Congenital Disorders that Affect the Kidneys offers information about the causes, symptoms, diagnosis, and treatment of various genetic and congenital disorders that affect the kidney such as Alport syndrome, Bartter syndrome, ectopic kidney, Fabry disease, medullary sponge kidney, and primary hyperoxaluria.

Part 7: Cancers of the Kidneys and Urinary Tract describes the causes, symptoms, diagnosis, and treatment of various cancers that can affect the different components of the urinary system, including kidney cancer, bladder cancer, urethral cancer, and prostate cancer.

Part 8: Kidney Failure: End-Stage Renal Disease explains treatments used to replace lost kidney function such as hemodialysis, peritoneal dialysis, and kidney transplantation. It talks about conservative management for kidney failure along with Medicare coverage available for dialysis and kidney transplant service. Information about end-of-life care for patients suffering from kidney disease is also provided.

Part 9: Additional Help and Information offers a glossary of important terms and a directory of government and private organizations that provide help and information to patients with kidney disease and urinary tract disorders.

BIBLIOGRAPHIC NOTE

This volume contains documents and excerpts from publications issued by the following U.S. government agencies: Agency for Toxic Substances and Disease Registry (ATSDR); Agricultural Research Service (ARS); Centers for Disease Control and Prevention (CDC); Centers for Medicare & Medicaid Services (CMS); Genetic and Rare Diseases Information Center (GARD); Genetics Home Reference (GHR); National Cancer Institute (NCI); National Center for Complementary and Integrative Health (NCCIH); National Institute of Biomedical Imaging and Bioengineering (NIBIB); National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National Institute of Neurological Disorders and Stroke (NINDS); National Institute on Aging (NIA); National Institutes of Health (NIH); NIH News in Health Office on Women’s Health (OWH); U.S. Department of Veterans Affairs (VA); and U.S. Food and Drug Administration (FDA).

It may also contain original material produced by Omnigraphics and reviewed by medical consultants.

ABOUT THE HEALTH REFERENCE SERIES

The Health Reference Series is designed to provide basic medical information for patients, families, caregivers, and the general public. Each volume provides comprehensive coverage on a particular topic. This is especially important for people who may be dealing with a newly diagnosed disease or a chronic disorder in themselves or in a family member. People looking for preventive guidance, information about disease warning signs, medical statistics, and risk factors for health problems will also find answers to their questions in the Health Reference Series. The Series, however, is not intended to serve as a tool for diagnosing illness, in prescribing treatments, or as a substitute for the physician–patient relationship. All people concerned about medical symptoms or the possibility of disease are encouraged to seek professional care from an appropriate healthcare provider.

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Health Reference Series editors use Stedman’s Medical Dictionary as an authority for questions related to the spelling of medical terms and The Chicago Manual of Style for questions related to grammatical structures, punctuation, and other editorial concerns. Consistent adherence is not always possible, however, because the individual volumes within the Series include many documents from a wide variety of different producers, and the editor’s primary goal is to present material from each source as accurately as is possible. This sometimes means that information in different chapters or sections may follow other guidelines and alternate spelling authorities. For example, occasionally a copyright holder may require that eponymous terms be shown in possessive forms (Crohn’s disease vs. Crohn disease) or that British spelling norms be retained (leukaemia vs. leukemia).

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Dr. K. Sivanandham, MBBS, DCH, MS (Research), PhD

OUR ADVISORY BOARD

We would like to thank the following board members for providing initial guidance on the development of this series:

Dr. Lynda Baker, Associate Professor of Library and Information Science, Wayne State University, Detroit, MI

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HEALTH REFERENCE SERIES UPDATE POLICY

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Part 1 | Understanding the Urinary System

Chapter 1 | Your Urinary System and How It Works

The principal function of the urinary system is to maintain the volume and composition of body fluids within normal limits. One aspect of this function is to rid the body of waste products that accumulate as a result of cellular metabolism, and, because of this, it is sometimes referred to as the excretory system.

Although the urinary system has a major role in excretion, other organs contribute to the excretory function. The lungs in the respiratory system excrete some waste products, such as carbon dioxide and water. The skin is another excretory organ that rids the body of wastes through the sweat glands. The liver and intestines excrete bile pigments that result from the destruction of hemoglobin. The major task of excretion still belongs to the urinary system. If it fails the other organs cannot take over and compensate adequately.

The urinary system maintains an appropriate fluid volume by regulating the amount of water that is excreted in the urine. Other aspects of its function include regulating the concentrations of various electrolytes in the body fluids and maintaining the normal pH of the blood.

In addition to maintaining fluid homeostasis in the body, the urinary system controls red blood cell (RBC) production by secreting the hormone erythropoietin. The urinary system also plays a role in maintaining normal blood pressure by secreting the enzyme renin.

Figure 1.1. Urinary System

Components of the Urinary System

The urinary system consists of the kidneys, ureters, urinary bladder, and urethra. The kidneys form the urine and account for the other functions attributed to the urinary system. The ureters carry the urine away from kidneys to the urinary bladder, which is a temporary reservoir for the urine. The urethra is a tubular structure that carries the urine from the urinary bladder to the outside.

Kidneys

The kidneys are the primary organs of the urinary system. The kidneys are the organs that filter the blood, remove the wastes, and excrete the wastes in the urine. They are the organs that perform the functions of the urinary system. The other components are accessory structures to eliminate the urine from the body.

The paired kidneys are located between the twelfth thoracic and third lumbar vertebrae, one on each side of the vertebral column. The right kidney usually is slightly lower than the left because the liver displaces it downward. The kidneys, protected by the lower ribs, lie in shallow depressions against the posterior abdominal wall and behind the parietal peritoneum. This means they are retroperitoneal. Each kidney is held in place by connective tissue, called renal fascia, and is surrounded by a thick layer of adipose tissue, called perirenal fat, which helps to protect it. A tough, fibrous, connective tissue renal capsule closely envelopes each kidney and provides support for the soft tissue that is inside.

In the adult, each kidney is approximately 3 cm thick, 6 cm wide, and 12 cm long. It is roughly bean-shaped with an indentation on the medial side, called the hilum. The hilum leads to a large cavity within the kidney, called the renal sinus. The ureter and renal vein leave the kidney, and the renal artery enters the kidney at the hilum.

The outer, reddish region, next to the capsule, is the renal cortex. This surrounds a darker reddish-brown region called the renal medulla. The renal medulla consists of a series of renal pyramids, which appear striated because they contain straight tubular structures and blood vessels. The wide bases of the pyramids are adjacent to the cortex and the pointed ends, called renal papillae, are directed toward the center of the kidney. Portions of the renal cortex extend into the spaces between adjacent pyramids to form renal columns. The cortex and medulla make up the parenchyma, or functional tissue, of the kidney.

The central region of the kidney contains the renal pelvis, which is located in the renal sinus and is continuous with the ureter. The renal pelvis is a large cavity that collects the urine as it is produced. The periphery of the renal pelvis is interrupted by cup-like projections called calyces. A minor calyx surrounds the renal papillae of each pyramid and collects urine from that pyramid. Several minor calyces converge to form a major calyx. From the major calyces, the urine flows into the renal pelvis; and from there, it flows into the ureter.

Each kidney contains over a million functional units, called nephrons, in the parenchyma (cortex and medulla). A nephron has two parts: a renal corpuscle and a renal tubule. The renal corpuscle consists of a cluster of capillaries, called the glomerulus, surrounded by a double-layered epithelial cup, called the glomerular capsule. An afferent arteriole leads into the renal corpuscle and an efferent arteriole leaves the renal corpuscle. Urine passes from the nephrons into collecting ducts then into the minor calyces.

Figure 1.2. Frontal Section through the Kidney

The juxtaglomerular apparatus, which monitors blood pressure and secretes renin, is formed from modified cells in the afferent arteriole and the ascending limb of the nephron loop.

Ureters

Each ureter is a small tube, about 25 cm long, that carries urine from the renal pelvis to the urinary bladder. It descends from the renal pelvis, along the posterior abdominal wall, which is behind the parietal peritoneum and enters the urinary bladder on the posterior inferior surface.

The wall of the ureter consists of three layers. The outer layer, the fibrous coat, is a supporting layer of fibrous connective tissue. The middle layer, the muscular coat, consists of the inner circular and outer longitudinal smooth muscle. The main function of this layer is peristalsis: to propel the urine. The inner layer, the mucosa, is the transitional epithelium that is continuous with the lining of the renal pelvis and the urinary bladder. This layer secretes mucus, which coats and protects the surface of the cells.

Figure 1.3. Wall of the Ureter

Urinary Bladder

The urinary bladder is a temporary storage reservoir for urine. It is located in the pelvic cavity, posterior to the symphysis pubis, and below the parietal peritoneum. The size and shape of the urinary bladder vary with the amount of urine it contains and with the pressure it receives from surrounding organs.

The inner lining of the urinary bladder is a mucous membrane of transitional epithelium that is continuous with that in the ureters. When the bladder is empty, the mucosa has numerous folds called rugae. The rugae and transitional epithelium allow the bladder to expand as it fills.

The second layer in the walls is the submucosa, which supports the mucous membrane. It is composed of connective tissue with elastic fibers.

The next layer is the muscularis, which is composed of smooth muscle. The smooth muscle fibers are interwoven in all directions and, collectively, these are called the detrusor muscle. The contraction of this muscle expels urine from the bladder. On the superior surface, the outer layer of the bladder wall is parietal peritoneum. In all other regions, the outer layer is fibrous connective tissue.

Figure 1.4. Urinary Bladder

There is a triangular area, called the trigone, formed by three openings in the floor of the urinary bladder. Two of the openings are from the ureters and form the base of the trigone. Small flaps of mucosa cover these openings and act as valves that allow urine to enter the bladder but prevent it from backing up from the bladder into the ureters. The third opening, at the apex of the trigone, is the opening into the urethra. A band of the detrusor muscle encircles this opening to form the internal urethral sphincter.

Urethra

The final passageway for the flow of urine is the urethra, a thin-walled tube that conveys urine from the floor of the urinary bladder to the outside. The opening to the outside is the external urethral orifice. The mucosal lining of the urethra is the transitional epithelium. The wall also contains smooth muscle fibers and is supported by connective tissue.

The internal urethral sphincter surrounds the beginning of the urethra, where it leaves the urinary bladder. This sphincter is smooth (involuntary) muscle. Another sphincter, the external urethral sphincter, is a skeletal (voluntary) muscle and encircles the urethra where it goes through the pelvic floor. These two sphincters control the flow of urine through the urethra.

In females, the urethra is short, only three to four cm (about 1.5 inches) long. The external urethral orifice opens to the outside just anterior to the opening for the vagina.

In males, the urethra is much longer, about 20 cm (7 to 8 inches) in length, and transports both urine and semen. The first part, next to the urinary bladder, passes through the prostate gland and is called the prostatic urethra. The second part, a short region that penetrates the pelvic floor and enters the penis, is called the membranous urethra. The third part, the spongy urethra, is the longest region. This portion of the urethra extends the entire length of the penis, and the external urethral orifice opens to the outside at the tip of the penis.

_____________

This chapter includes text excerpted from Introduction to the Urinary System, Surveillance, Epidemiology, and End Results Program (SEER), National Cancer Institute (NCI), July 1, 2002. Reviewed April 2020.

Chapter 2 | Your Kidneys and How They Work

The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of your spine.

Healthy kidneys filter about a half cup of blood every minute, removing wastes and extra water to make urine. The urine flows from the kidneys to the bladder through two thin tubes of muscle called ureters, one on each side of your bladder. Your bladder stores urine. Your kidneys, ureters, and bladder are part of your urinary tract.

Why Are the Kidneys Important?

Your kidneys remove wastes and extra fluid from your body. They also remove acid that is produced by the cells of your body and maintain a healthy balance of water, salts, and minerals—such as sodium, calcium, phosphorus, and potassium—in your blood.

Without this balance, nerves, muscles, and other tissues in your body may not work normally.

Your kidneys also make hormones that help:

Control your blood pressure

Make red blood cells

Keep your bones strong and healthy

Figure 2.1. Parts of Urinary Tract

How Do Kidneys Work?

Each of your kidneys is made up of about a million filtering units called nephrons. Each nephron includes a filter, called the glomerulus, and a tubule. The nephrons work through a two-step process: the glomerulus filters your blood, and the tubule returns needed substances to your blood and removes wastes.

The Glomerulus Filters Your Blood

As blood flows into each nephron, it enters a cluster of tiny blood vessels—the glomerulus. The thin walls of the glomerulus allow smaller molecules, wastes, and fluid—mostly water—to pass into the tubule. Larger molecules, such as proteins and blood cells, stay in the blood vessel.

Figure 2.2. The Nephron

Each nephron has a glomerulus to filter your blood and a tubule that returns needed substances to your blood and pulls out additional wastes. Wastes and extra water become urine.

The Tubule Returns Needed Substances to Your Blood and Removes Wastes

A blood vessel runs alongside the tubule. As the filtered fluid moves along the tubule, the blood vessel reabsorbs almost all of the water, along with minerals and nutrients your body needs. The tubule helps remove excess acid from the blood. The remaining fluid and wastes in the tubule become urine.

How Does Blood Flow through the Kidneys?

Blood flows into the kidney through the renal artery. This large blood vessel branches into smaller and smaller blood vessels until the blood reaches the nephrons. In the nephron, your blood is filtered by the tiny blood vessels of the glomeruli and then flows out of your kidney through the renal vein.

Figure 2.3. Blood Circulation through Kidney

Blood flows into your kidneys through the renal artery and exits through the renal vein. Your ureter carries urine from the kidney to your bladder.

Your blood circulates through your kidneys many times a day. In a single day, your kidneys filter about 150 quarts of blood. Most of the water and other substances that filter through your glomeruli are returned to your blood by the tubules. Only one to two quarts become urine.

_____________

This chapter includes text excerpted from Your Kidneys and How They Work, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), June 2018.

Chapter 3 | Major Risk Factors for Kidney Disease

Chapter Contents

Section 3.1—Age-Related Decline in Kidney and Urinary Tract

Section 3.2—Diabetes and Kidney Disease

Section 3.3—High Blood Pressure and Kidney Disease

Section 3.4—Family History and Kidney Disease

Section 3.5—Obesity and Kidney Disease

Section 3.6—Race, Ethnicity, and Kidney Disease

Section 3.7—How Drugs Can Damage Kidneys (Analgesic Nephropathy)

Section 3.8—Chemotherapy-Induced Kidney Injury

Section 3.1 | Age-Related Decline in Kidney and Urinary Tract

This section includes text excerpted from NIH Urges Older Americans to Protect Their Kidneys, National Institutes of Health (NIH), March 13, 2014. Reviewed April 2020.

The main job of kidneys is to filter wastes and extra water from the blood to make urine. Chronic kidney disease (CKD) is defined by decreased kidney function and/or evidence of kidney damage, usually marked by protein in the urine. The Centers for Disease Control and Prevention (CDC) estimates that more than 10 percent of adults in the United States—more than 20 million people—may have CKD. Diabetes and high blood pressure are the leading causes of kidney disease and kidney failure.

Age is also a major risk factor for kidney disease. With advancing years, kidney function generally declines, resulting in increased vulnerability of the older kidney to acute injury and CKD. As the kidney ages, filtering capacity decreases, the overall amount of kidney tissue may decrease, and the blood vessels that supply the kidney may narrow, further reducing the capacity of the kidneys to filter blood. This decline in kidney function with age is nearly universal but occurs at different rates in different people. Conditions, such as high blood pressure, smoking and diabetes can accelerate these changes.

Because healthy people have significant reserve kidney function, most age-related decline in kidney function does not make an older person feel or function any differently. However, it is important for older adults and their care providers to know whether kidney function is reduced. Moreover, if kidney function appears to be declining at a rate faster than expected, reversible or treatable causes might be identified to slow the process and preserve kidney function.

Regardless of whether the cause is aging, disease, or both, complications from certain medications increase as kidney function declines. The level of some medicines in the blood may increase because impaired kidneys are less able to eliminate them. The kidneys may also become more sensitive to certain medications. For example, nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen, some antibiotics, and x-ray contrast agents may be more likely to cause acute kidney injury (AKI).

There is a significant need to educate the aging population and their healthcare providers about ways to prevent kidney injury. Encouraging older Americans to know their level of kidney function and be mindful of the medicines they take is an important step toward reducing the growing rates of kidney injury in the United States.

As the U.S. population ages and rates of diabetes rise, the number of older Americans at risk for kidney disease will increase. Research has helped us to better understand the impact of aging on kidney function and how aging-related changes increase older adults’ vulnerability to acute and chronic kidney disease.

Section 3.2 | Diabetes and Kidney Disease

This section includes text excerpted from Chronic Kidney Disease Initiative—Make the Connection, Centers for Disease Control and Prevention (CDC), December 6, 2019.

Make the Connection

If You Have Diabetes, Ask Your Doctor about Kidney Disease

Chronic kidney disease (CKD) often develops slowly and with few symptoms. Many people do not realize they are sick until the disease is advanced and they need dialysis (a treatment that filters the blood) or a kidney transplant to survive.

If you have diabetes, get your kidneys checked regularly, which is done by your doctor with simple blood and urine tests. Regular testing is your best chance for identifying CKD early if you do develop it. Early treatment is most effective and can help prevent additional health problems.

You can help keep your kidneys healthy by managing your blood sugar, blood pressure, and cholesterol levels. This is also very important for your heart and blood vessels—high blood sugar, blood pressure, and cholesterol levels are all risk factors for heart disease and stroke.

Kidney Facts

Kidney diseases are the ninth leading cause of death in the United States.

Approximately one in three adults with diabetes have CKD.

Every 24 hours, 160 people with diabetes begin treatment for kidney failure.

Tips for Keeping Your Kidneys Healthy

Check your blood pressure regularly and keep it below 140/90 mm/Hg, but check with your healthcare provider for your appropriate target. Talk to your doctor about medicines and other ways to lower your blood pressure.

Stay in your target cholesterol range.

Eat foods lower in sodium.

Eat more fruits and vegetables.

Stay physically active.

Take your medications as directed.

If you have diabetes:

Meet blood sugar targets as often as you can

Have an A1C test at least twice a year, but ideally up to four times a year. An A1C test measures the average level of blood sugar over the past three months.

Preventing type 2 diabetes is another important step in preventing kidney disease. Studies have shown that overweight people at higher risk for type 2 diabetes can prevent or delay the disease by losing 5 to 7 percent of their body weight, or 10 to 14 pounds for a 200-pound person. You can do that by eating healthier and getting 150 minutes of physical activity each week. The Centers for Disease Control and Prevention (CDC)-led National Diabetes Prevention Program can help you adopt the healthy lifestyle habits needed to prevent diabetes. Find a convenient program in your community.

Section 3.3 | High Blood Pressure and Kidney Disease

This section includes text excerpted from High Blood Pressure and Kidney Disease, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), March 2020.

What Is High Blood Pressure?

Blood pressure is the force of blood pushing against blood vessel walls as your heart pumps out blood. High blood pressure, also called hypertension, is an increase in the amount of force that blood places on blood vessels as it moves through the body.

How Does High Blood Pressure Affect the Kidneys?

High blood pressure can constrict and narrow the blood vessels, which eventually damages and weakens them throughout the body, including in the kidneys. The narrowing reduces blood flow.

If your kidneys’ blood vessels are damaged, they may no longer work properly. When this happens, the kidneys are not able to remove all wastes and extra fluid from your body. Extra fluid in the blood vessels can raise your blood pressure even more, creating a dangerous cycle, and cause more damage leading to kidney failure.

How Common Are High Blood Pressure and Kidney Disease?

Almost one in two U.S. adults—or about 108 million people—have high blood pressure.

More than one in seven U.S. adults—or about 37 million people—may have chronic kidney disease (CKD).

High blood pressure is the second leading cause of kidney failure in the United States after diabetes, as illustrated in figure 3.1

How Can I Prevent or Slow the Progression of Kidney Disease from High Blood Pressure?

The best way to slow or prevent kidney disease from high blood pressure is to take steps to lower your blood pressure.

Figure 3.1. Causes of kidney failure in the United States

These steps include a combination of medicines and lifestyle changes, such as:

Being physically active

Maintaining a healthy weight

Quitting smoking

Managing stress

Following a healthy diet, including less sodium (salt) intake

No matter what the cause of your kidney disease, high blood pressure can make your kidneys worse. If you have kidney disease, you should talk with your healthcare professional about your individual blood pressure goals and how often you should have your blood pressure checked.

Section 3.4 | Family History and Kidney Disease

Family History and Kidney Disease, © 2020 Omnigraphics. Reviewed April 2020.

Based on various research, it has been concluded that kidney disease runs in families. An individual might be at a risk for kidney disease if any of their close relatives (parent, sibling, or grandparent) had been affected by kidney disease.

Role of Gene and Lifestyle on Health

Genes are inherited from parents and they give personal traits to an individual such as being tall or short, or having brown or blue eyes. The genes can also put a person at a higher risk of acquiring diabetes, high blood pressure, or kidney disease. However, having a family member with kidney disease does not necessarily mean that an individual will acquire the same.

Lifestyle and habits are how a person chooses to lead their everyday life. Though an individual cannot change their genes, a few lifestyle changes can be made to work against the genes that increases the risk of acquiring a kidney disease. Some of these lifestyle changes include:

Controlling the blood pressure

Controlling the blood sugar (if the individual is diabetic)

Following a low-salt diet

Avoiding smoking or tobacco use

Limiting the intake of alcohol

Maintaining a healthy weight with a balanced diet and regular exercise

Key Information about Familial Kidney Diseases

Since kidney disease may affect some families more than the others, it is important to understand the causes of kidney diseases. The following are some important questions that may arise regarding familial kidney diseases.

What to Do If the Family Members Have Kidney Disease?

In a family, for example, if an individual has a sibling and parent who are affected with diabetic kidney disease, then the chances of the individual developing kidney disease is higher. However, if the individual is diabetic but does not have any relative who is affected by diabetic kidney disease, then they have a lower chance of acquiring diabetic kidney disease during the course of their lifetime. Genes might be a potential reason why the African American, Hispanic, Pacific Islander, Native American, or Native Alaskan are at a higher risk of kidney disease.

What to Do If There Is a Family History of Kidney Diseases?

It is necessary for the family members of those with kidney disease to intimate their physician to check if they need to be screened for kidney disease. According to experts, if there is one member of the family affected by kidney disease, then the rest of the family members who are over the age of 18 need to be tested for potential kidney issues.

It is important for the physician to know:

If there are any blood relatives who have or had kidney failure. It can also be helpful if the cause of the disease is known.

Any health issues such as diabetes, high blood pressure, heart disease, kidney infections, kidney stones, and prostate problems that may put the person at direct risk of kidney failure.

What Are the Types of Kidney Diseases That Can Be Inherited?

There are two types of rare kidney diseases that are known to be inherited:

Polycystic Kidney Disease

Polycystic kidney disease, sometimes called adult PKD since it usually affects adults, is a genetically inherited disease. There is a rare type of PKD that affects babies and children. PKD affects other organs as well including the liver, pancreas, and spleen; however, it primarily affects the kidney forming a cyst or a fluid-filled pouch in them. The adult PKD is passed on by parents to their child by an autosomal dominant type of inheritance.

Fabry Disease

This is an inherited disease that shows mild to severe symptoms that may be life-threatening. Fabry disease mainly affects the kidney and can result in kidney failure in some people.

It is necessary to get tested to know how well the kidney is functioning since kidney diseases often do not show any signs or symptoms until the kidney is extensively damaged. It is important to learn about family history to know if it puts an individual and their family directly at risk of getting affected by kidney disease. It is recommended that the individual along with their family gets screened for potential kidney issues.

References

Family History, American Kidney Fund, February 16, 2014.

Genetics and Kidney Disease, National Kidney Foundation, October 20, 2011.

Section 3.5 | Obesity and Kidney Disease

This section includes text excerpted from Health Risks of Being Overweight, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), February 2015. Reviewed April 2020.

What Kinds of Health Problems Are Linked to Overweight and Obesity?

Excess weight may increase the risk for many health problems, including:

Type 2 diabetes

High blood pressure

Heart disease and strokes

Certain types of cancer

Sleep apnea

Osteoarthritis (OA)

Fatty liver disease

Kidney disease

Pregnancy problems such as high blood sugar during pregnancy, high blood pressure, and increased risk for cesarean delivery (C-section)

Kidney Disease

What Is Kidney Disease?

Your kidneys are two bean-shaped organs that filter blood, removing extra water and waste products, which become urine. Your kidneys also help control blood pressure so that your body can stay healthy.

Kidney disease means that the kidneys are damaged and cannot filter blood as they should. This damage can cause wastes to build up in the body. It can also cause other problems that can harm your health.

How Is Kidney Disease Linked to Overweight?

Obesity increases the risk of diabetes and high blood pressure, the most common causes of chronic kidney disease (CKD). Some studies suggest that even in the absence of these risks, obesity itself may promote CKD and quicken its progress.

How Can Weight Loss Help?

If you are in the early stages of CKD, losing weight may slow the disease and keep your kidneys healthier longer. You should also choose foods with less salt (sodium), keep your blood pressure under control, and keep your blood glucose in the target range.

Section 3.6 | Race, Ethnicity, and Kidney Disease

This section includes text excerpted from Race, Ethnicity, and Kidney Disease, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), March 2014. Reviewed April 2020.

African Americans, Hispanics, and American Indians are at high risk for developing kidney failure. This risk is due to high rates of diabetes and high blood pressure in these communities.

African Americans

African Americans are almost four times as likely as Whites to develop kidney failure.

While African Americans make up about 13 percent of the population, they account for 35 percent of the people with kidney failure in the United States. Diabetes and high blood pressure are the leading causes of kidney failure among African Americans.

Hispanics

A growing number of Hispanics are diagnosed with kidney disease each year. Since 2000, the number of Hispanics with kidney failure has increased by more than 70 percent. Compared to non-Hispanics, Hispanics are almost 1.3 times more likely to be diagnosed with kidney failure.

American Indians and Alaska Natives

American Indians also are disproportionately affected by kidney failure. Compared to Whites, American Indians are about 1.2 times more likely to be diagnosed with kidney failure. Diabetes is the leading cause of kidney failure among American Indians. However, better diabetes care is reducing the risk of kidney failure in American Indians with diabetes.

Section 3.7 | How Drugs Can Damage Kidneys (Analgesic Nephropathy)

This section includes text excerpted from Keeping Kidneys Safe: Smart Choices about Medicines, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), June 2018.

Manage Your Medicines with Help from Your Healthcare Providers

At the Pharmacy

The next time you pick up a prescription or buy an over-the-counter (OTC) medicine or supplement, ask your pharmacist how the product may affect your kidneys or react with other medicines you take.

Figure 3.2. Drug Facts Labels

Example of a Drug Facts label for a cold medicine that includes an NSAID.

Fill your prescriptions at only one pharmacy or pharmacy chain so your pharmacist can monitor your medicines and supplements, and check for harmful interactions between your medicines.

At Your Doctor’s Office

Keep an up-to-date list of your medicines and supplements in your wallet. Take your list with you, or bring all your medicine bottles, to all healthcare visits.

Be Careful about Using Over-the-Counter Medicines

If you take over-the-counter (OTC) or prescription medicines for headaches, pain, fever, or colds, you may be taking a nonsteroidal anti-inflammatory drug (NSAID). NSAIDs include popular pain relievers and cold medicines that can damage your kidneys if you take them for a long time, or lead to acute kidney injury (AKI) if you take them when you are dehydrated or your blood pressure is low.

Ibuprofen and naproxen are NSAIDs. NSAIDs are sold under many different brand names, so ask your pharmacist or healthcare provider if the medicines you take are safe to use.

You also can look for NSAIDs on Drug Facts labels such as the one in figure 3.2.

Plan Ahead to Manage Pain, Flu, or Other Illness

Almost everyone gets sick once in a while. Your doctor or pharmacist can help you plan ahead to keep your kidneys safe until you get well. Prepare in advance so you know what to do if you have pain or a fever, diarrhea, nausea, or vomiting, which can lead to dehydration.

Before you get sick, ask your healthcare provider or pharmacist the following questions:

If I get sick, are there medicines I should not take while I am sick?

If I need to stop medicines when I am sick, when can I restart them?

What can I take or do to relieve a headache or other pain?

What can I take to relieve a fever?

If I have diarrhea or am vomiting, do I need to change how or when I take my blood pressure medicine?

If Blood Pressure Medicines Help Your Kidneys, Why All This Extra Caution?

In normal, everyday circumstances, taking your blood pressure medicines as prescribed helps protect your kidneys. However, certain situations such as when you are dehydrated from the flu or diarrhea, can lower the blood flow to your kidneys and cause harm.

Factors That Can Add Up to Cause Harm

When you get sick from something such as the flu or diarrhea or have trouble drinking enough fluids, the blood pressure in your body may decrease. As a result, the pressure in your kidneys can be low, too.

In most cases, healthy kidneys can protect themselves. However, if you keep taking your blood pressure medicines when you are dehydrated or have low blood pressure, your kidneys might have a hard time protecting themselves. The pressure within your kidneys might drop so low that your kidneys would not filter normally.

If you are dehydrated, NSAIDs can also keep your kidneys from protecting themselves. As a result, taking NSAIDs when you are sick and dehydrated can cause kidney injury.

Section 3.8 | Chemotherapy-Induced Kidney Injury

This section includes text excerpted from Support for People with Cancer Chemotherapy and You, National Cancer Institute (NCI), September 2018.

Urinary, Kidney, or Bladder Changes

What They Are and Why They Occur

Some types of chemotherapy damage cells in the kidneys and bladder. Problems may include:

Burning or pain when you begin to urinate or after you empty your bladder

Frequent, more urgent need to urinate

Not being able to urinate

Not able to control the flow of urine from the bladder (also called incontinence)

Blood in the urine

Fever

Chills

Urine that is orange, red, green, or dark yellow or has a strong medicine odor

Some kidney and bladder problems will go away after you finish chemotherapy. Other problems can last for the rest of your life.

Ways to Manage

You will have regular lab tests. Your doctor or nurse will take urine and blood samples to check how well your bladder and kidneys are working.

Drink plenty of fluids. Fluids will help flush the chemotherapy out of your bladder and kidneys.

Limit drinks that contain caffeine, such as black tea, coffee, and some cola products.

Talk to your doctor or nurse. Tell them if you have any of the problems listed above.

Chapter 4 | Kidney Disease and Exposure to Nephrotoxins

You come into contact with chemicals every day. This is called chemical exposure. Although some chemical exposures are safe, others are not. A certain amount of a harmful chemical must enter your body to make you sick. Harmful chemicals can get into your body if you breathe, eat, or drink them or if they are absorbed through your skin. This chapter explains some links between chemicals and other harmful substances and their possible health effects.

People respond to chemical exposures in different ways. Some people may come into contact with a chemical and never be harmed. Others may be more sensitive and get sick. Sometimes illness happens only if you are exposed to a harmful substance for a long time.

Many factors play a part in whether you get sick from contact with chemicals, including:

The kind of chemical you are exposed to

How much of the chemical you were in contact with

How long the contact lasted

How often you were exposed

How it entered your body

Your health

Table 4.1. Possible Contaminants of Renal Exposure

Health Effects of Some Chemicals on Renal Exposure

The renal system’s function is to rid the body of waste, to regulate the amount of body fluids, and to regulate the amount of salts in the body. It includes the kidneys, the urethra, the bladder, and the ureter. Possible health effects of the renal system include decreased formation of urine, decreased blood flow to the kidney, decreased ability to filter the blood, prevented urine flow, kidney tissue damage, and kidney cancer.

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This chapter includes text excerpted from Health Effects of Chemical Exposure, Agency for Toxic Substances and Disease Registry (ATSDR), Centers for Disease Control and Prevention (CDC), July 30, 2011. Reviewed April 2020.

Chapter 5 | Genetics Variations and Kidney Disease

Chapter Contents

Section 5.1—Unraveling Genetic Basis of Kidney Disease in African Americans

Section 5.2—Genetic Mechanism of Polycystic Kidney Disease

Section 5.1 | Unraveling Genetic Basis of Kidney Disease in African Americans

This section includes text excerpted from Story of Discovery—APOL1 Gene Variants: Unraveling the Genetic Basis of Elevated Risk for Kidney Disease in African Americans, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), January 24, 2017.

African Americans have higher rates of end-stage renal disease (ESRD) than European Americans, but for many years the reasons for this health disparity were largely unknown. In 2008, researchers reported that genetic variations on chromosome 22, later revealed to be in the APOL1 gene, were linked to a greater incidence of nondiabetic kidney disease among African Americans. The identification of APOL1 kidney disease risk variants, which are found primarily in African Americans, is arguably the most important discovery about the pathogenesis of chronic kidney disease (CKD) over the past several decades, and these variants are among the only known genetic factors contributing to the well-appreciated health disparities in kidney diseases. In the years since the initial groundbreaking discovery of APOL1 risk variants, numerous the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)-supported studies have shed light on their important roles in disease risk and the underlying mechanisms of APOL1 protein function, creating new research avenues to improve health in populations at risk.

The Heavy Burden of Kidney Disease in Some Populations

Early-stage kidney disease often has no symptoms. Left unchecked, however, it can silently progress to kidney failure, a condition in which the kidneys are no longer able to filter waste and excess fluids from the blood. Millions of U.S. adults are estimated to have CKD, and despite recent advances in preserving kidney function in individuals with early-stage kidney disease, serious health complications are common.

The two most common causes of kidney failure are diabetes and hypertension (high blood pressure), which account for a majority of new cases. Both conditions are more frequent in minority populations, and African Americans bear an especially heavy burden of kidney disease. African Americans are more likely to develop diabetic kidney disease and kidney failure than Whites. One cause is a form of kidney disease called focal segmental glomerulosclerosis (FSGS), in which the glomeruli—the tiny filtering units of the kidneys—are damaged and scarred. Most FSGS arises from unknown causes and is termed idiopathic FSGS. African Americans are significantly more likely to develop idiopathic FSGS compared to individuals of other racial backgrounds. The health disparity increases dramatically with human immunodeficiency viruses (HIV) infection—African Americans are far more likely than Whites to develop FSGS related to infection with HIV, the virus that causes acquired immunodeficiency syndrome (AIDS). These rather striking disparities represent a serious public-health problem, not only because of the kidney disease itself but also because people who have even mild- to moderately-severe kidney disease typically have high blood pressure and other risk factors for serious complications, such as cardiovascular disease (CVD).

What accounts for this dramatically increased risk of severe kidney disease in African Americans? Scientists and physicians have long known that kidney disease tends to run in families and to cluster in racial/ethnic groups. These observations indicate that kidney disease is likely to have a genetic component. It is also almost certain that environmental and other factors also play a role in disease susceptibility and outcomes. However, studies that have attempted to identify genes that confer susceptibility to kidney disease and kidney failure had not generally been successful.

Moreover, it is not clear that all forms of kidney disease originate from a common starting point or progress through a shared pathway. For example, while patients with diabetes or those with hypertension are at increased risk of developing kidney disease and kidney failure, not all patients at risk go on to develop kidney disease. In addition, it is not clear that the underlying disease mechanisms which initiate injury and facilitate progression in diabetic and hypertensive kidney disease are the same. If, in fact, these two conditions cause kidney disease through different pathways, then treatment strategies for people whose kidney disease is a consequence of diabetes could be very different from those for people whose kidney disease is attributed to hypertension. Because of these considerations, it has been especially important to identify the genetic contribution to disease development and progression and characterize the biological pathways that lead to diminished kidney function.

A Foundational Discovery

In 2008, members of the NIDDK-supported Family Investigation of Nephropathy and Diabetes (FIND) Consortium, along with scientists in the NIDDK’s Intramural Research Program, reported that genetic variations on chromosome 22 were linked to a greater incidence of nondiabetic kidney disease among African Americans. Initially, attention focused on the region surrounding the MYH9 gene. Further analyses revealed that much of the increased risk of kidney disease is actually due to two variations in the adjacent APOL1 gene, which encodes the protein apolipoprotein L1 (also designated as APOL1 protein,) a component of so-called good cholesterol that is found circulating in the blood and in kidney cells. Two specific variants of this gene, termed G1 and G2, have been shown to account for nearly all of the excess risk of kidney failure in African Americans arising from causes other than diabetes—a major breakthrough in understanding the increased burden of the disease. The low-risk APOL1 genetic variant is termed G0.

Associations between APOL1 Variants and Kidney Diseases

Soon after this association was reported, scientists found that African Americans with two copies of APOL1 high-risk variants are at increased risk of developing kidney disease, particularly FSGS and kidney disease related to infection with HIV. This finding comes from collaborative research led by scientists in the NIDDK and National Cancer Institute (NCI) intramural research programs. Investigators in the United States and Europe were also part of the research team. The scientists studied patients with kidney disease who came to the National Institutes of Health (NIH) Clinical Center (CC) or other collaborating medical centers and provided blood samples for genetic studies.

Human cells typically have two copies of each gene—one inherited from each parent. African Americans with no normal copies of the APOL1 gene, but instead two kidney disease risk variant copies, have about four percent lifetime risk of developing FSGS. Those who develop this disease tend to do so at younger ages than other FSGS patients, with 70 percent diagnosed between ages 15 and 39, compared to 42 percent in that age group for people with one or no APOL1 high-risk variants. FSGS patients with two APOL1 high-risk variants respond as well to steroid treatments, the therapy with the best chance of inducing a partial or complete remission of the disease, as people without the variants. However, the scientists found that the disease progresses more rapidly to kidney failure in patients with two APOL1 variants. Among African Americans who are HIV positive, but not receiving antiviral therapy, possessing two APOL1 variants raises the risk of developing HIV-associated kidney disease to 50 percent. (Antiviral therapy (ART) appears fairly effective at preventing HIV-associated kidney disease.)

The persistence of APOL1 variants in people of African descent may be partly explained by the ability of the APOL1 protein to destroy certain parasites. Although the normal APOL1 protein can destroy the parasite Trypanosoma brucei brucei (T. b. brucei), it is unable to destroy two related parasites, T. b. rhodensiense and T. b. gambiense. These parasites cause African sleeping sickness, a hematologic and neurological disease, spread by the tsetse fly, that kills thousands of people in sub-Saharan Africa each year. However, people with at least one copy of the G1 or G2 variants are protected against infection because they are able to destroy T. b. rhodensiense and T. b. gambiense. These two APOL1 variants appear to have evolved relatively recently—in the past 10,000 years or so. Their relatively recent appearance and high frequency in chromosomes in individuals of African descent suggest that the variants may support protection against parasitic infection.

It should be noted that most people with two APOL1 variants do not develop kidney disease. Indeed, the much higher risk of kidney disease in patients with HIV suggested that a second triggering event, or hit, either with a virus or another factor, contributes to kidney injury in people who have two high-risk APOL1 variants. Nevertheless, the observed increased risks of FSGS and HIV-associated kidney disease were the strongest effects yet discovered for common variants in a complex disease.

Looking Forward

A clear picture is emerging that links APOL1 gene variants to kidney diseases under a range of conditions that need further studies, such as HIV-associated nephropathy, pediatric kidney disease, sickle cell nephropathy, and kidney transplantation. The NIDDK continues to support research at multiple levels to understand these relationships in African Americans and other populations. For example, the NIDDK held a conference in June 2015 on APOL1 and kidney disease to assess gaps in knowledge, including the function of the APOL1 protein and its role in kidney transplantation. The conference developed new ideas regarding how APOL1 gene variants lead to disease susceptibility, what kidney and cardiovascular outcomes are associated with these variants, which additional genetic variants or environmental factors play a role in differences in disease symptoms, and the possible role of determining whether patients have APOL1 gene variants in guiding treatment as well as preventive strategies for patients.

Additionally, in 2016 the NIDDK, the National Institute on Minority Health and Health Disparities (NIMHD), and the National Institute of Allergy and Infectious Diseases (NIAID) began the APOL1 Long-term Kidney Transplantation Outcomes Network (APOLLO) initiative. This initiative aims to determine the impact of APOL1 genetic variants as risk factors in the U.S. kidney transplant recipients who received kidneys from African American donors. The consortium will examine the rate of change of kidney function in recipients, and rates of acute rejection of the kidney transplant, graft failure, and return to maintenance dialysis in the recipients, who received kidneys from patients of African descent, in the presence and absence of the APOL1 genetic variants. Outcomes in kidney donors, including vital and renal functional status, will also be assessed.

These seminal studies, as well as many others over the past several years, have revealed the importance of APOL1 in understanding some key differences in kidney disease risk across populations. Unraveling the molecular mechanisms by which APOL1 variants contribute to kidney injury could provide key insights into the causes and possible treatments for kidney disease in African Americans. Moving forward, clinicians may be able to make more informed choices about when to start screening for kidney disease and how to choose an appropriate therapy by identifying which patients have these gene variants and are therefore at increased risk of developing kidney disease and progressing to kidney failure.

Section 5.2 | Genetic Mechanism of Polycystic Kidney Disease

This section includes text excerpted from Polycystic Kidney Disease, Genetics Home Reference (GHR), National Institutes of Health (NIH), March 31, 2020.

Polycystic kidney disease (PKD) is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.

Frequent complications of PKD include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections (UTI), kidney stones, and heart valve abnormalities. Additionally, people with PKD have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture.

Major Forms of Polycystic Kidney Disease

The two major forms of PKD are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. ADPKD can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy.

Frequency of Polycystic Kidney Disease

Polycystic kidney disease is a fairly common genetic disorder. It affects about 500,000 people in the United States. The autosomal dominant form of the disease is much more common than the autosomal recessive form. Autosomal dominant polycystic kidney disease affects 1 in 500 to 1,000 people, while the autosomal recessive type occurs in an estimated 1 in 20,000 to 40,000 people.

Causes of Polycystic Kidney Disease

Mutations in the PKD1, PKD2, and PKHD1 genes cause polycystic kidney disease.

Mutations in either the PKD1 or PKD2 gene can cause autosomal dominant polycystic kidney disease; PKD1 gene mutations cause ADPKD type 1, and PKD2 gene mutations cause ADPKD type 2. These genes provide instructions for making proteins whose functions are not fully understood. Researchers believe that they are involved in transmitting chemical signals from outside the cell to the cell’s nucleus. The two proteins work together to promote normal kidney development, organization, and function. Mutations in the PKD1 or PKD2 gene lead to the formation of thousands of cysts, which disrupt the normal functions of the kidneys and other organs. People with mutations in the PKD2 gene, particularly women, typically have a less severe form of the disease than people with PKD1 mutations. The signs and symptoms, including a decline in kidney function, tend to appear later in adulthood in people with a PKD2 mutation.

Mutations in the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD). This gene provides instructions for making a protein whose exact function is unknown; however, the protein likely transmits chemical signals from outside the cell to the cell nucleus. Researchers have not determined how mutations in the PKHD1 gene lead to the formation of numerous cysts characteristic of polycystic kidney disease.

Although polycystic kidney disease is usually a genetic disorder, a small percentage of cases are not caused by gene mutations. These cases are called acquired polycystic kidney disease. This form of the disorder occurs most often in people with other types of kidney disease who have been treated for several years with hemodialysis (a procedure that filters waste products from the blood).

Inheritance Pattern of Polycystic Kidney Disease

Most cases of polycystic kidney disease have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the PKD1 or PKD2 gene in each cell. In about 90 percent of these cases, an affected person inherits the mutation from one affected parent. The other 10 percent of cases result from a new mutation in one of the genes and occur in people with no history of the disorder in their family.

Although one altered copy of a gene in each cell is sufficient to cause the disorder, an additional mutation in