Crigler-Najjar syndrome type 2 (Q91609): Difference between revisions
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13 August 2026
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Latest revision as of 18:38, 15 August 2026
Type 2 Crigler-Najjar syndrome is a hereditary disorder of bilirubin metabolism characterised by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms). First clinical manifestations usually appear soon after birth. CNS2 patients are less severely jaundiced than CNS1 patients, have pigmented bile that contains bilirubin glucuronides, and generally do not present neurologic or intellectual impairment. Bilirubin encephalopathy may develop in later life when patients experience a superimposed infection or stress.
| Language | Label | Description | Also known as |
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| default for all languages | ID_846453488 |
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| English | Crigler-Najjar syndrome type 2 |
Type 2 Crigler-Najjar syndrome is a hereditary disorder of bilirubin metabolism characterised by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms). First clinical manifestations usually appear soon after birth. CNS2 patients are less severely jaundiced than CNS1 patients, have pigmented bile that contains bilirubin glucuronides, and generally do not present neurologic or intellectual impairment. Bilirubin encephalopathy may develop in later life when patients experience a superimposed infection or stress. |
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CID11:ID_846453488
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dki-india-ID_846453488
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Concluído
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13 August 2026
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