肝脏
肝髒
간장
CHINESE HEPATOLOGY
2015年
2期
129-131
,共3页
李娟%曲金宁%张云丽%刘梅%郑素军%陈煜
李娟%麯金寧%張雲麗%劉梅%鄭素軍%陳煜
리연%곡금저%장운려%류매%정소군%진욱
Gilbert 综合征%临床特点%诱发因素%基因检测
Gilbert 綜閤徵%臨床特點%誘髮因素%基因檢測
Gilbert 종합정%림상특점%유발인소%기인검측
Gilbert syndrome%Hepatic pathology%Diagnosis%Gene Test
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。
目的:探討 Gilbert 綜閤徵的臨床特點及誘髮因素。方法迴顧性分析8例 Gilbert 綜閤徵患者的一般資料、臨床錶現、實驗室檢查、輔助檢查、肝穿、基因檢測結果。結果男性多于女性,臨床癥狀輕微,8例患者均有皮膚鞏膜黃染,乏力6例,肝區不適3例;誘髮因素:勞纍5例,飲酒2例,饑餓3例,感染2例;8例均為非結閤膽紅素升高、其他肝功能指標正常,饑餓試驗均暘性,8例患者經基因檢測均髮現基因突變位點;6例患者經祛除誘因後肝功能正常,其中2例患者苯巴比妥治療有效。6例患者隨訪超過3年,無肝功能及其他異常。結論Gilbert 綜閤徵以慢性、間歇性、高非結閤膽紅素血癥為特徵,臨床診斷缺乏特異性,肝穿、苯巴比妥試驗和饑餓試驗可協助診斷,基因檢測暘性可確診,預後良好。
목적:탐토 Gilbert 종합정적림상특점급유발인소。방법회고성분석8례 Gilbert 종합정환자적일반자료、림상표현、실험실검사、보조검사、간천、기인검측결과。결과남성다우녀성,림상증상경미,8례환자균유피부공막황염,핍력6례,간구불괄3례;유발인소:로루5례,음주2례,기아3례,감염2례;8례균위비결합담홍소승고、기타간공능지표정상,기아시험균양성,8례환자경기인검측균발현기인돌변위점;6례환자경거제유인후간공능정상,기중2례환자분파비타치료유효。6례환자수방초과3년,무간공능급기타이상。결론Gilbert 종합정이만성、간헐성、고비결합담홍소혈증위특정,림상진단결핍특이성,간천、분파비타시험화기아시험가협조진단,기인검측양성가학진,예후량호。
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 2 cases,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 them 2 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.