【摘要】 目的总结Gilbert综合征(GS)的临床特点、诊断和治疗。方法回顾性分析11例GS患者的临床、实验室检查、肝组织病理以及胆红素-尿嘧啶二磷酸葡萄糖醛酸转移酶(UGT)基因的检测资料。结果 11例GS患者中,有皮肤、巩膜黄染9例,无自觉症状4例,纳差伴乏力7例,右上腹不适5例,恶心呕吐2例。20岁以前发病患者的平均总胆红素(TBil)和间接胆红素(IBil)分别为123.85μmol/L和52.74μmol/L,均高于20-40岁发病者的111.85μmol/L和41.83μmol/L(P<0.05)。对1例患者行基因测序,其UGT1A1基因1号外显子存在686C>A杂合突变。结论GS患者表现为慢性反复轻度升高的IBil,临床症状轻微。临床诊断无特异性方法,UGT1A1基因检测对于GS的诊断、治疗和遗传咨询具有重要意义。更多还原

【Abstract】 Objective To analyze the clinical and pathological characteristics,diagnosis and treatment of Gilbert′s syndrome.Methods Data of clinical material,laboratory tests,pathology of liver tissues and UGT1A1 gene analysis from 11 patients with Gilbert′s syndrome were analyzed retrospectively.Results Of 11 patients,skin yellow sclera was seen in 9cases,non-conscious disorder in 4cases,anorexia accompanied by fatigue in 7cases,right upper quadrant discomfort in 5cases,nausea and vomiting in 2cases.The values of TBil and IBil in the patients younger than 20 year old were 123.85μmol/L and 52.74μmol/L,respectively,which were significantly higher than 111.85μmol/L and 41.83μmol/L in those elder than 20 year old(P<0.05).One patient underwent gene sequencing,which showed that the heterozygous mutation of UGT1A1 exon gene 686C> A exists.Conclusion The patients with Gilbert′s syndrome show a chronic recurrent mildly elevated indirect bilirubinemia with some mild clinical symptoms.There is no specific method for the diagnose of Gilbert′s syndrome.The UGT1A1 gene sequencing is valuable in the diagnosis,treatment and genetic counseling for Gilbert′s syndrome.更多还原