摘要 患儿，女，2岁，反复皮肤、巩膜黄染2年，无其他症状及体征，应用苯巴比妥类药物黄疸可缓解。实验室检查间接胆红素多次升高，转氨酶正常，肝脏影像学正常，无溶血证据。患儿尿苷二磷酸葡萄糖醛酸转移酶 (UGT1A1)基因分析提示：存在已报道的GS致病突变，c.211G > A (G71R)、c.1456T > G (Y486D)双重纯合突变；父母均为G71R、Y486D双重杂合携带者，无黄疸症状。确诊为Gilbert综合征（GS）。该病较少见。高未结合胆红素血症不能用常见肝损害及溶血解释时，建议调查家族史，尽早完善基因分析，以发现某些先天性胆红素代谢障碍性疾病。
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 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.
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