16例Gilbert综合征患者的临床、病理特征和基因分析

目的 总结Gilbert综合征的临床和病理特征.方法 对16例有肝活组织检查的Gilbert综合征患者的临床病理资料进行总结,并对其中2例进行基因检测. 结果 16例Gilbert综合征患者中,男13例,女3例,年龄14～40岁.间断黄疸、非结合性胆红素升高.肝活组织检查中央静脉周围肝细胞内可见脂褐素沉积.2例患者的基因分析,致病基因为第1外显子突变(Gly71Arg),为显性遗传. 结论 Gilbert综合征发病以青少年多见,并有间断出现非结合性胆红素升高.肝组织病理学检查有助于排除其他与非结合性胆红素升高有关的肝脏疾病的诊断.开展相关的基因检测有助于总结我国Gilbert综合征的遗传基因特点.

Clinical and pathological features of 16 patients with Gilbert syndrome and 2 cases with genetic analysis

OBJECTIVE: To summarize the clinical and pathological features of Gilbert syndrome. METHODS: The clinical features and liver histological findings of 16 cases of Gilbert syndrome were reviewed. RESULTS: Of the 16 cases (13 males and 3 females, with an age range from 14 to 40 years), all had recurrent jaundice, unconjugated hyperbilirubinermia and lipofuscin granules in the hepatocytes around the hepatic perivenular areas. The genetic analysis of the two patients showed that the site of genetic mutations were located at exon 1 (Gly71Arg). CONCLUSIONS: The diagnosis of Gilbert disease can be improved by combining the data of clinical features, the genetic analysis findings and the histological changes of the livers of the patients.