Bilirubin Adsorption Therapy and Subsequent Liver Transplantation Cured Severe Bilirubin Encephalopathy in a Long-term Survival Patient with Crigler-Najjar Disease Type I.
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چکیده
منابع مشابه
Acute bilirubin encephalopathy in healthy term neonates requiring exchange transfusion
Intruduction: There is a growing concern about an increasing bilirubin-induced neurological dysfunction (BIND) in healthy term neonates with no evidence of hemolytic disease or other risk factors. This study was done to determine the incidence of BIND in otherwise healthy, breast-fed newborn term infants without hemolysis who underwent exchange transfusion. Methods: This study was conducted i...
متن کاملAnalysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient.
Crigler-Najjar (CN) syndrome is a rare autosomal recessive inherited disorder characterized by non-hemolytic, unconjugated hyperbilirubinemia. The levels of serum bilirubin and the response to phenobarbital treatment have been used to classify CN syndrome into two types: CN I and II. Mutations of the UGT1A1 gene have been found to be responsible f...
متن کاملUnconjugated bilirubin and an increased proportion of bilirubin monoconjugates in the bile of patients with Gilbert's syndrome and Crigler-Najjar disease.
Bilirubin pigments were studied in the bile of 20 normal adults, 25 patients with Gilbert's syndrome, 9 children with Crigler-Najjar disease, and 6 patients with hemolysis, to determine how a deficiency of hepatic bilirubin UDP-glucuronosyltransferase would affect the end products of bilirubin biotransformation. In the bile from patients with Gilbert's syndrome, a striking increase was found in...
متن کاملHematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.
Gilbert and Crigler-Najjar syndromes are familial unconjugated hyperbilirubinemias caused by genetic lesions involving a single complex locus encoding for bilirubin UDP-glucuronosyltransferase (UGT1A1) gene. Over the last years a number of different mutations affecting this gene have been characterized. In this report is provided a summary of reported Gilbert and Crigler-Najjar syndromes associ...
متن کاملIdentification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient.
Patients with Crigler-Najjar syndrome (CN) type I inherit an autosomal recessive trait for hyperbilirubinemia, which is characterized by the total absence of bilirubin UDP-glucuronosyltransferase (transferase) activity. The recent identification of two bilirubin transferase isoforms with identical carboxyl termini (Ritter, J. K., J. M. Crawford, and I. S. Owens. 1991. J. Biol. Chem. 266:1043-10...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2000
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.39.961