title: [Repeated yellowing of the skin and sclera for 2 years].
abstract: A two-year-old girl was admitted due to repeated yellowing of the skin and sclera for 2 years and had no other specific symptoms or signs. The use of phenobarbital could relieve the symptoms of jaundice. Multiple examinations showed increased indirect bilirubin levels, and the results of aminotransferases and liver imaging were normal. There was no evidence of hemolysis. The analysis of UGT1A1 gene in her family found that this child had double homozygous mutation of c.211G>A(G71R) and c.1456T>G(Y486D), which had been reported as the pathogenic mutation for Gilbert syndrome. Her parents carried double heterozygous mutation of G71R and Y486D and had no symptom of jaundice. The child was diagnosed as having Gilbert syndrome. It is concluded that as for patients with unconjugated hyperbilirubinemia which cannot be explained by liver damage and hemolysis, their family history should be investigated in detail and gene analysis should be performed as early as possible, in order to identify congenital bilirubin metabolic disorders.
authors.affiliation: Department of Pediatric Hematology and Oncology, Hunan People's Hospital, Changsha 410005, China. hexiangl@163.com.
authors.forename: Xiao-Ye
authors.initials: XY
authors.lastname: Yuan
authors.forename: Xiang-Ling
authors.initials: XL
authors.lastname: He
authors.forename: Hui
authors.initials: H
authors.lastname: Zou
authors.forename: Run-Ying
authors.initials: RY
authors.lastname: Zou
mesh_terms: D002675:Child, Preschool; D005260:Female; D005878:Gilbert Disease / Q000175:diagnosis*; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012590:Sclera / Q000473:pathology; D012867:Skin / Q000473:pathology; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme