Sndrome de Crigler-Najjar - Overview

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Nombres alternativos
Deficiencia de glucuronil transferasa (Crigler-Najjar tipo I); Sndrome de Arias (CriglerNajjar tipo II)

Definicin:
Es un trastorno hereditario muy poco comn en el cual no se puede descomponer la bilirrubina (una sustancia elaborada por el hgado).

Causas, incidencia y factores de riesgo:

El sndrome de Crigler-Najjar ocurre cuando la enzima que normalmente convierte la bilirrubina en una forma que se pueda eliminar fcilmente del cuerpo no funciona de manera correcta. Sin esta enzima, la bilirrubina se puede acumular en el cuerpo y llevar a ictericia (una coloracin amarillenta de la piel y de los ojos), al igual que dao al cerebro, los msculos y los nervios. El sndrome de Crigler-Najjar (tipo 1) es la forma de aparicin temprana de la enfermedad, mientras que el sndrome de Arias (tipo 2) es una enfermedad de aparicin tarda. El sndrome se da en familias (hereditario). Un nio tiene que recibir una copia del gen defectuoso de ambos progenitores para desarrollar la forma grave de esta afeccin. Los padres portadores (con slo un gen defectuoso) tienen casi la mitad de la actividad enzimtica de un adulto normal.

Anatoma del hgado

Reviewed last on: 9/10/2010 Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias
Carey RG, Balistreri WF. Metabolic Diseases of the Liver. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 354.

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