Crigler-Najjar syndrome type 2 (Q91609): Difference between revisions

@@ description / pt-br / description / pt-br @@
+A síndrome de Crigler-Najjar (SCN) tipo 2 é um distúrbio hereditário do metabolismo da bilirrubina caracterizado por hiperbilirrubinemia não conjugada devido à atividade reduzida e induzível da bilirrubina hepática glucuronosiltransferase. Trata-se de uma forma mais branda que a síndrome tipo 1. As primeiras manifestações clínicas geralmente aparecem logo após o nascimento. Pacientes com SCN tipo 2 são tem menor grau de ictéricos em relação aos do SCN tipo1, a bile pigmentada contém glicuronídeos de bilirrubina e geralmente não apresentam comprometimento neurológico ou intelectual. A encefalopatia bilirrubínica pode se desenvolver mais tarde na vida, quando os pacientes apresentam uma infecção superposta ou estresse.
@@ description / en / description / en @@
+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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+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
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After 0
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++2026-08-13T00:00:00Z
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@@ Property / Collection date: 13 August 2026 / rank @@
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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
default for all languages	ID_846453488
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.