title: [The first case of Crigler-Najjar syndrome in the Czech Republic].
abstract: BACKGROUND
  Crigler-Najjar syndrome is a rare disease due to a congenital deficiency of bilirubin UDP glucuronosyl transferase in the liver tissue. It is characterised by high levels of unconjugated bilirubin in plasma through the whole life. The aim of the study was to confirm the clinical diagnosis of the first Crigler-Najjar syndrome case in our country.
  
  
  RESULTS
  34 years old Gypsy women was admitted to our GI clinic for clinical examination before scheduled cholecystectomy. The high plasmatic level of unconjugated bilirubin was found and therefore the diagnosis of Crigler-Najjar syndrome was anticipated. The diagnosis was based on the chromatographic analysis of biliary bile pigments. The amount of diconjugates was considerable decreased. In addition, the molecular analysis of DNA isolated from peripheral blood leukocyte was performed to confirm our conclusions. Our patients was found to be homozygous for a nucleotide shift in the unique exon of bilirubin UDP glucuronosyl transferase 1, substituting guanine into an adenine at position 211.
authors.affiliation: Interní klinika 1. LF UK a VFN, Praha.
authors.forename: L
authors.initials: L
authors.lastname: Vítek
authors.forename: P
authors.initials: P
authors.lastname: Bosma
authors.forename: A
authors.initials: A
authors.lastname: de Boer
authors.forename: M
authors.initials: M
authors.lastname: Jirsa
authors.forename: M
authors.initials: M
authors.lastname: Brodanová
authors.forename: P
authors.initials: P
authors.lastname: Kotal
mesh_terms: D000328:Adult; D003414:Crigler-Najjar Syndrome / Q000175:diagnosis / Q000453:epidemiology; D018153:Czech Republic / Q000453:epidemiology; D005260:Female; D006801:Humans