title: Jaundice with hypertrophic pyloric stenosis as an early manifestation of Gilbert syndrome.
abstract: Jaundice associated with hypertrophic pyloric stenosis was recognised in three patients; previous reports have suggested that this is a possible early manifestation of Gilbert syndrome. Most patients with Gilbert syndrome are homozygous for a (TA)(7)TAA polymorphism in the gene promoter coding for bilirubin glucuronosyltransferase. Two of the reported patients were homozygous for the (TA)(7)TAA polymorphism whereas the third was heterozygous for the same polymorphism. Furthermore, no other factors contributing to jaundice in the three patients were found. These results suggest that jaundice associated with hypertrophic pyloric stenosis is due to molecular defects within the gene promoter.
authors.affiliation: Service de Pédiatrie and UPRES EA 2704, Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, BP 405, 92141 Clamart CEDEX, France.
authors.forename: P
authors.initials: P
authors.lastname: Trioche
authors.forename: J
authors.initials: J
authors.lastname: Chalas
authors.forename: J
authors.initials: J
authors.lastname: Francoual
authors.forename: L
authors.initials: L
authors.lastname: Capel
authors.forename: A
authors.initials: A
authors.lastname: Lindenbaum
authors.forename: M
authors.initials: M
authors.lastname: Odièvre
authors.forename: P
authors.initials: P
authors.lastname: Labrune
mesh_terms: D000328:Adult; D005260:Female; D005878:Gilbert Disease / Q000150:complications* / Q000235:genetics; D014453:Glucuronosyltransferase / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007565:Jaundice / Q000209:etiology*; D008297:Male; D011110:Polymorphism, Genetic; D011707:Pyloric Stenosis / Q000209:etiology*; D016385:TATA Box / Q000235:genetics
chemical_list: D014453:Glucuronosyltransferase