Crigler-Najjar syndrome
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Template:Infobox - Genetic disease
Crigler-Najjar syndrome type I[edit | edit source]
- 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[edit | edit source]
- Complete absence of bilirubin-uridine diphosphate glucuronyl transferase → bilirubin conjugation disorder → bilirubin cannot be excreted in the bile
Clinical course[edit | edit source]
- 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[edit | edit source]
- Lack of UDPG-trasferase activity in the liver
Therapy[edit | edit source]
- Intensive phototherapy and exchange blood transfusion, cholestyramine administration.
- Liver transplantation[1].
Crigler-Najjar syndrom type II[edit | edit source]
- AD hereditary partial defect in bilirubin uridine diphosphate glucuronyl transferase (UDPG transferase) hepatocytes.
- Mild indirect (unconjugated) hyperbilirubinemia.
Clinical course[edit | edit source]
- Icterus with unconjucated hyperbilirubinemia.
- Bile and urine are stained, conjugated bilirubin can be detected.
Diagnosis[edit | edit source]
- Lower activity of UDPG-transferase in the liver.
Therapy[edit | edit source]
- Enzyme induction by phenobarbital[1].
Links[edit | edit source]
Related articles[edit | edit source]
References[edit | edit source]
