Crigler-Najjar syndrome, type I
Crigler-Najjar Syndrome, Type I[edit | edit source]
Crigler-Najjar Syndrome, Type I is a rare genetic disorder characterized by a severe form of unconjugated hyperbilirubinemia. This condition is caused by a deficiency in the enzyme UDP-glucuronosyltransferase, which is crucial for the conjugation of bilirubin in the liver.
Etiology[edit | edit source]
Crigler-Najjar Syndrome, Type I is an autosomal recessive disorder resulting from mutations in the UGT1A1 gene. This gene is responsible for encoding the enzyme UDP-glucuronosyltransferase 1A1, which is essential for the conversion of unconjugated bilirubin into its conjugated form.
Pathophysiology[edit | edit source]
In individuals with Crigler-Najjar Syndrome, Type I, the complete absence or severe deficiency of UDP-glucuronosyltransferase leads to the accumulation of unconjugated bilirubin in the blood. This results in jaundice, a yellowing of the skin and eyes, and can lead to severe neurological damage known as kernicterus if not managed appropriately.
Clinical Presentation[edit | edit source]
Patients with Crigler-Najjar Syndrome, Type I typically present with severe jaundice shortly after birth. Unlike Crigler-Najjar Syndrome, Type II, Type I does not respond to phenobarbital treatment, which is used to induce enzyme activity in Type II.
Diagnosis[edit | edit source]
Diagnosis of Crigler-Najjar Syndrome, Type I involves:
- Elevated levels of unconjugated bilirubin in the blood.
- Genetic testing to identify mutations in the UGT1A1 gene.
- Exclusion of other causes of unconjugated hyperbilirubinemia.
Management[edit | edit source]
Management of Crigler-Najjar Syndrome, Type I includes:
- Phototherapy: Intensive phototherapy is used to convert bilirubin into water-soluble isomers that can be excreted without conjugation.
- Liver transplantation: This is the only definitive treatment and is considered in severe cases to prevent neurological damage.
- Calcium phosphate and carbonate: These can be used to bind bilirubin in the gut and reduce enterohepatic circulation.
Prognosis[edit | edit source]
Without treatment, Crigler-Najjar Syndrome, Type I can lead to severe neurological damage and death. With appropriate management, including liver transplantation, patients can have a significantly improved quality of life.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Crigler-Najjar syndrome, type I is a rare disease.
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Contributors: Prab R. Tumpati, MD
