反复皮肤、巩膜黄染2年

发布时间：2018-07-14 07:14

【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.211GA(G71R)、c.1456TG(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]:Children, 2 years old, recurrent skin, scleral yellow staining for 2 years, no other symptoms and signs, the use of phenobarbital drugs jaundice can be alleviated. Laboratory examination of indirect bilirubin increased repeatedly, transaminase was normal, liver imaging was normal, no evidence of hemolysis. The analysis of uridine diphosphate glucuronyltransferase (UGT1A1) gene showed that there was a double homozygous mutation of GS, c. 211GA (G71R), c. 1456TG (Y486D), and that the parents were both G71RPY486D carriers without jaundice symptoms. Gilbert syndrome (GS). The disease is rare. When high unconjugated bilirubinemia can not be explained by common liver damage and hemolysis, it is suggested to investigate family history and improve gene analysis as soon as possible in order to find some congenital disorders of bilirubin metabolism.
【作者单位】：湖南省人民医院儿童医学中心血液肿瘤科;

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