Crigler-Najjar syndrome (Q40115): Difference between revisions
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A síndrome de Crigler-Najjar é um distúrbio autossômico recessivo do metabolismo da bilirrubina, caracterizado por hiperbilirrubinemia não conjugada(bilirrubina indireta) devido a um déficit hepático da atividade da bilirrubina glucuronosiltransferase. Dois tipos foram descritos, SCN tipos 1 e 2, dependendo se o déficit enzimático é completo ou parcial: as manifestações clínicas variam de acordo. Os pacientes apresentam icterícia isolada que aparece no início da vida. As análises biológicas detectam hiperbilirrubinemia não conjugada grave com testes de função hepática normais. Os estudos de imagem abdominal (radiografias simples, tomografias computadorizadas ou ultrassonografias) e os achados da histologia hepática são normais. O diagnóstico geralmente é confirmado por análise de DNA genômico. | |||
| description / en | description / en | ||
Crigler-Najjar syndrome is an autosomal recessive disorder of bilirubin metabolism characterised by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase activity. Two types have been described, CNS types 1 and 2, depending on whether the enzymatic deficit is complete or partial: clinical manifestations vary accordingly. Patients present with isolated jaundice that appears early in life. Biological analyses detect severe unconjugated hyperbilirubinemia with normal liver function tests. Abdominal imaging studies (plain X-rays, CT scans or ultrasonograms) and liver histology findings are normal. Diagnosis is generally confirmed by genomic DNA analysis. | |||
Revision as of 05:47, 13 August 2026
Crigler-Najjar syndrome is an autosomal recessive disorder of bilirubin metabolism characterised by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase activity. Two types have been described, CNS types 1 and 2, depending on whether the enzymatic deficit is complete or partial: clinical manifestations vary accordingly. Patients present with isolated jaundice that appears early in life. Biological analyses detect severe unconjugated hyperbilirubinemia with normal liver function tests. Abdominal imaging studies (plain X-rays, CT scans or ultrasonograms) and liver histology findings are normal. Diagnosis is generally confirmed by genomic DNA analysis.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C58.00 |
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| English | Crigler-Najjar syndrome |
Crigler-Najjar syndrome is an autosomal recessive disorder of bilirubin metabolism characterised by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase activity. Two types have been described, CNS types 1 and 2, depending on whether the enzymatic deficit is complete or partial: clinical manifestations vary accordingly. Patients present with isolated jaundice that appears early in life. Biological analyses detect severe unconjugated hyperbilirubinemia with normal liver function tests. Abdominal imaging studies (plain X-rays, CT scans or ultrasonograms) and liver histology findings are normal. Diagnosis is generally confirmed by genomic DNA analysis. |
