Crigler-Najjar syndrome
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]
- ↑ Jump up to: a b MUNTAU, Ania Carolina. Pediatrisc. 4. edition. Praha : Grada, 2009. pp. 386-388. ISBN 978-80-247-2525-3.
Source[edit | edit source]
Template:Infobox - Genetic disease
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[1].
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[1].
Links
Related articles
References
- 1 2 MUNTAU, Ania Carolina. Pediatrisc. 4. edition. Praha : Grada, 2009. pp. 386-388. ISBN 978-80-247-2525-3.
