Crigler-Najjar syndrome

Crigler-Najjar syndrome type I

 * AR hereditary complete defect of bilirubin-uridine diphosphate-glucuronyl-transferase (UDPG-transferase, UGT1A1) hepatocytes.
 * The most severe indirect (unconjugated) hyperbilirubinemia with early complications (nuclear jaundice).

Etiology

 * Complete absence of bilirubin-uridine diphosphate glucuronyl transferase → bilirubin conjugation disorder → bilirubin cannot be excreted in the bile

Clinical course

 * Icterus with a sharp rise in unconjugated bilirubin during the first hours of life.
 * Bile is colorless.
 * Stool is brown - the transfer of unconjugated bilirubin through the intestinal mucosa.
 * Urine is light, no bilirubin can be detected in it (unconjugated does not pass into the urine)
 * Without therapy, nuclear icterus soon develops.

Diagnosis

 * Lack of UDPG-trasferase activity in the liver

Therapy

 * Intensive phototherapy and exchange blood transfusion, cholestyramine administration.
 * Liver transplantation.

Crigler-Najjar syndrom type II

 * AD hereditary partial defect in bilirubin uridine diphosphate glucuronyl transferase (UDPG transferase) hepatocytes.
 * Mild indirect (unconjugated) hyperbilirubinemia.

Clinical course

 * Icterus with unconjucated hyperbilirubinemia.
 * Bile and urine are stained, conjugated bilirubin can be detected.

Diagnosis

 * Lower activity of UDPG-transferase in the liver.

Therapy

 * Enzyme induction by phenobarbital.

Related articles

 * Hyperbilirubinemia in newborns and infants
 * Juvenile hyperbilirubinemia

Source

 * ws:https://www.wikiskripta.eu/index.php?curid=11500