Crigler-Najjar syndrome, type II
=Crigler-Najjar Syndrome, Type II =
Crigler-Najjar Syndrome, Type II is a rare genetic disorder characterized by elevated levels of unconjugated bilirubin in the blood, leading to jaundice and other potential complications. It is a milder form of Crigler-Najjar Syndrome compared to Type I.
Etiology[edit | edit source]
Crigler-Najjar Syndrome, Type II is caused by mutations in the UGT1A1 gene, which encodes the enzyme uridine diphosphate glucuronosyltransferase (UGT1A1). This enzyme is responsible for the conjugation of bilirubin in the liver, a process necessary for its excretion from the body.
Pathophysiology[edit | edit source]
In Type II, the UGT1A1 enzyme is present but has reduced activity, leading to partial impairment in bilirubin conjugation. This results in moderate hyperbilirubinemia, typically ranging from 6 to 20 mg/dL, which is lower than in Crigler-Najjar Syndrome, Type I.
Clinical Features[edit | edit source]
Patients with Crigler-Najjar Syndrome, Type II often present with:
- Persistent jaundice
- Mild to moderate unconjugated hyperbilirubinemia
- Absence of kernicterus (brain damage due to bilirubin) under normal conditions
Diagnosis[edit | edit source]
Diagnosis is based on clinical presentation, family history, and laboratory tests showing elevated unconjugated bilirubin. Genetic testing can confirm mutations in the UGT1A1 gene.
Treatment[edit | edit source]
Treatment options include:
- Phenobarbital: This medication can induce UGT1A1 enzyme activity, reducing bilirubin levels.
- Avoidance of factors that may exacerbate jaundice, such as fasting and certain medications.
Prognosis[edit | edit source]
The prognosis for individuals with Crigler-Najjar Syndrome, Type II is generally good, with a normal life expectancy. However, monitoring and management of bilirubin levels are important to prevent complications.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Crigler-Najjar syndrome, type II is a rare disease.
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