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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。
Objective To summarize the clinical features, diagnosis and treatment of Gilbert’s syndrome (GS). Methods Retrospective analysis of 11 cases of GS patients clinical, laboratory tests, liver histopathology and bilirubin - uracil diphosphate glucuronosyltransferase (UGT) gene test data. Results Among the 11 patients with GS, there were 9 cases of skin and sclera yellow staining, 4 cases of no symptoms, 7 cases of anorexia with weakness, 5 cases of right upper quadrant discomfort and 2 cases of nausea and vomiting. The average total bilirubin (TBil) and indirect bilirubin (IBil) were 123.85μmol / L and 52.74μmol / L in the patients before 20 years old, which were higher than 111.85μmol / L and 41.83 μmol / L (P <0.05). A case of gene sequencing, UGT1A1 gene exon 1 686C> A heterozygous mutation. Conclusions The patients with GS showed mild and slowly recurrent IBil with mild clinical symptoms. No specific method of clinical diagnosis, UGT1A1 gene detection for the diagnosis of GS, treatment and genetic counseling is important.