中国当代儿科杂志2017，Vol.19Issue(1)：77-80,4.DOI:10.7499/j.issn.1008-8830.2017.01.013
反复皮肤、巩膜黄染2年
Repeated yellowing of the skin and sclera for 2 years
袁小叶 1贺湘玲 1邹惠 1邹润英1
作者信息
- 1. 湖南省人民医院儿童医学中心血液肿瘤科，湖南长沙 410005
- 折叠
摘要
Abstract
Objective A two-year-old girl was admitted due to repeated yellowing of the skin and sclera for 2 years and had no other speciifc 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.关键词
Gilbert综合征/黄疸/UGT1A1基因/基因突变/儿童Key words
Gilbert syndrome/Jaundice/UGT1A1 gene/Gene mutation/Child引用本文复制引用
袁小叶,贺湘玲,邹惠,邹润英..反复皮肤、巩膜黄染2年[J].中国当代儿科杂志,2017,19(1):77-80,4.
