【摘要】：患兒,女,2歲,反復(fù)皮膚、鞏膜黃染2年,無其他癥狀及體征,應(yīng)用苯巴比妥類藥物黃疸可緩解。實(shí)驗(yàn)室檢查間接膽紅素多次升高,轉(zhuǎn)氨酶正常,肝臟影像學(xué)正常,無溶血證據(jù)。患兒尿苷二磷酸葡萄糖醛酸轉(zhuǎn)移酶(UGT1A1)基因分析提示:存在已報(bào)道的GS致病突變,c.211GA(G71R)、c.1456TG(Y486D)雙重純合突變;父母均為G71R、Y486D雙重雜合攜帶者,無黃疸癥狀。確診為Gilbert綜合征(GS)。該病較少見。高未結(jié)合膽紅素血癥不能用常見肝損害及溶血解釋時(shí),建議調(diào)查家族史,盡早完善基因分析,以發(fā)現(xiàn)某些先天性膽紅素代謝障礙性疾病。
[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.
【作者單位】： 湖南省人民醫(yī)院兒童醫(yī)學(xué)中心血液腫瘤科;

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