Gilbert综合征8例临床特征分析及文献复习

Analysis of clinical characteristics of eight patients with Gilbert syndrome

目的探讨Gilbert综合征的临床特点及诱发因素。方法回顾性分析8例Gilbert综合征患者的一般资料、临床表现、实验室检查、辅助检查、肝穿、基因检测结果。结果男性多于女性,临床症状轻微,8例患者均有皮肤巩膜黄染,乏力6例,肝区不适3例;诱发因素:劳累5例,饮酒2例,饥饿3例,感染2例;8例均为非结合胆红素升高、其他肝功能指标正常,饥饿试验均阳性,8例患者经基因检测均发现基因突变位点;6例患者经祛除诱因后肝功能正常,其中2例患者苯巴比妥治疗有效。6例患者随访超过3年,无肝功能及其他异常。结论 Gilbert综合征以慢性、间歇性、高非结合胆红素血症为特征,临床诊断缺乏特异性,肝穿、苯巴比妥试验和饥饿试验可协助诊断,基因检测阳性可确诊,预后良好。

Objective To analyze the clinical characteristics and inducements of Glibert syndrome.Methods The clinical data of eight patients with Glibert syndrome were collected to be analyzed.Results Most patients with Gilbert syndrome were usually absent of clinical signs and symptoms,with a male preponderance.All the patients in our study had the signs of yellow skin and sclera,and fatigue in 6 patients,3 cases of liver discomfortable;Tired in 5 cases,alcohol in 2cases,3 cases of starvation and infection in 2 cases.All the patients with increased indirect bilirubin,other abnormal indexes of liver function and Hunger test showed positive.All of them had Glibert syndrome related gene mutation;Liver function was normal in 6 cases when treated by removing incentives,among them2 patients were effective in the treatment of Phenobarbital.6 patients were followed up for more than 3 years,and had no liver or other function abnormalities.Conclusion Gilbert syndrome is usually asymptomatic,results in mild pathological changes in the liver,and does not need treatment.Liver biopsy,phenobarbital Sodium test and hunger test is helpful to diagnosis.Gene mutation test are useful to make sure the diagnosis of Gilbert syndrome.