Тодорхойлолт
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.
Индексийн нэр томьёо Index terms · 28
Crigler-Najjar syndromeBilirubin uridinediphosphate glucuronosyltransferase deficiencyHereditary unconjugated hyperbilirubinaemiaBilirubin-UGT deficiencyUGT deficiencyBilirubin UDP glucuronyl transferase deficiencybilirubin glucuronosyltransferase deficiencycrigler-najjar disease or syndromedeficiency of glucuronosyltransferaseglucuronyl transferase deficiencyglucuronyltransferase deficiencyudp glucuronyl transferase deficiencyCNS - [Crigler-Najjar syndrome]congenital familial nonhemolytic jaundiceCrigler-Najjar syndrome type 1Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1Hereditary unconjugated hyperbilirubinaemia type 1Bilirubin-UGT deficiency type 1UGT deficiency type 1Bilirubin glucuronyltransferase deficiencyCNS1 - [Crigler-Najjar syndrome type 1]Crigler-Najjar syndrome type 2Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2Hereditary unconjugated hyperbilirubinaemia type 2Bilirubin-UGT deficiency type 2UGT deficiency type 2Arias syndromeCNS2 - [Crigler-Najjar syndrome type 2]
