title: [Gilbert's syndrome: a clinicogenetic trial].
abstract: OBJECTIVE
  To improve diagnosis of Gilbert's syndrome (GS) basing on functional and genetic methods of examination.
  
  
  METHODS
  GS was diagnosed in 88 patients aged 15-72 years using clinical and genetic tests.
  
  
  RESULTS
  Genotyping has detected changes in promotor part of the gene coding uridindiphosphateglucuroniltransferase. In homozygous carriers GS was characterized by a higher baseline level of bilirubin, distinct response to functional tests, frequent combination with essential tremor. In heterozygous patients GS often ran latently.
  
  
  CONCLUSIONS
  Four variants of GS course were established: dispepsic, asthenovegetative, jaundice, latent. Low-caloric diet followed by fenobarbital raised sensitivity and specificity of the test. A clinical classification of GS is proposed. The detected disorders of antipirin pharmacokinetics allow prognosis of the risk of unwanted reactions to the drugs metabolized by monooxigenases of the liver.
authors.forename: L Iu
authors.initials: LIu
authors.lastname: Il'chenko
authors.forename: V N
authors.initials: VN
authors.lastname: Drozdov
authors.forename: I S
authors.initials: IS
authors.lastname: Shuliat'ev
authors.forename: A V
authors.initials: AV
authors.lastname: Petrakov
authors.forename: A V
authors.initials: AV
authors.lastname: Karabanov
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001663:Bilirubin / Q000097:blood*; D004247:DNA / Q000235:genetics; D018450:Disease Progression; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D005878:Gilbert Disease / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D014453:Glucuronosyltransferase / Q000097:blood / Q000235:genetics; D006801:Humans; D008111:Liver Function Tests; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011379:Prognosis; D013577:Syndrome; D000099148:UGT1A1 Enzyme
chemical_list: D001663:Bilirubin; D004247:DNA; D005819:Genetic Markers; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme