Kernicterus in an adult who is heterozygous for Crigler-Najjar syndrome and homozygous for gilbert-type genetic defect

N. Chalasani, N. R. Chowdhury, Jayanta Roy-Chowdhury, T. D. Boyer

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

Gilbert syndrome is a common genetic disorder associated with mild unconjugated hyperbilirubinemia and no clinical illness. In contrast, Crigler-Najjar syndrome types I and II are rare genetic disorders associated with severe unconjugated hyperbilirubinemia and a life-long risk of kernicterus. Patients with Gilbert syndrome have low levels of a normal form of uridinediphosphoglucuronate glucuronosyltransferase because of a defect in the promoter region of both alleles, whereas patients with Crigler-Najjar syndrome are homozygous for a defect that yields an abnormal form of the enzyme that has limited or no activity. This case report describes a young adult with Crigler-Najjar syndrome type II in whom kernicterus developed after a laparoscopic cholecystectomy. The development of kernicterus was the result of a largely preventable series of events that lead to an increase in the free fraction of his serum bilirubin. Analysis of his genetic defect showed that he was homozygous for the mutation associated with Gilbert syndrome and heterozygous for a second mutation in the open reading frame of one allele of the bilirubin uridinediphosphoglucuronate glucuronosyltransferase gene. The combined defect leads to severe hyperbilirubinemia and shows how seemingly benign genetic defects, when combined, can cause serious clinical disease.

Original languageEnglish (US)
Pages (from-to)2099-2103
Number of pages5
JournalGastroenterology
Volume112
Issue number6
DOIs
StatePublished - 1997
Externally publishedYes

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Crigler-Najjar Syndrome
Gilbert Disease
Kernicterus
Hyperbilirubinemia
Glucuronosyltransferase
Inborn Genetic Diseases
Bilirubin
Alleles
Mutation
Laparoscopic Cholecystectomy
Genetic Promoter Regions
Open Reading Frames
Young Adult
Enzymes
Serum
Genes
Type 2 Crigler Najjar syndrome

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Kernicterus in an adult who is heterozygous for Crigler-Najjar syndrome and homozygous for gilbert-type genetic defect. / Chalasani, N.; Chowdhury, N. R.; Roy-Chowdhury, Jayanta; Boyer, T. D.

In: Gastroenterology, Vol. 112, No. 6, 1997, p. 2099-2103.

Research output: Contribution to journalArticle

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