摘要
良性复发性肝内胆汁淤积症(benign recurrent intrahepatic cholestasis,BRIC)是一种临床较为少见的家族性肝内胆汁淤积症,为常染色体隐性遗传疾病,主要由ATP8B1或ABCB11基因突变所致。BRIC的首次发病可以从任何年龄开始,持续数周至数月。疾病可以在患者的一生中多次发生,但不引起慢性肝病。发病时主要症状是严重的黄疸,肝功能检测胆红素指标明显升高,以直接胆红素为主。间歇期患者的生化指标和影像学检查无明显异常。本文通过对ATP8B1基因突变引起的典型临床表现分析BRIC的临床及分子病理特点,以加强临床医师对此类肝内胆汁淤积症遗传学病因的深入了解,并有助于在临床实践中及时和正确地诊断相关疾病。
Benign recurrent intrahepatic cholestasis(BRIC)is a rare familial intrahepatic cholestasis.It is an autosomal recessive genetic disease and is mainly caused by mutation in ATP8B1 or ABCB11 genes.The first onset of BRIC can start at any age and last from weeks to months.The disease can occur multiple times in patient’s lifetime but does not cause chronic liver disease.When disease occurs,the most prominent symptom is severe jaundice,index of bilirubin is significantly increased,mainly direct bilirubin.Biochemical indicators and imaging examination of patient during the interval can be completely normal.In this article,we analyzed the clinical and pathological features of BRIC,which is caused by mutation of ATP8B1 gene,and summarized the clinical and genetic features of familial intrahepatic cholestasis diseases.Further study the characteristics of this type of genetic diseases will be helpful for clinical diagnosis and potential treatment of patients.
作者
赵俊波
袁林
周颖蕾
张海辉
郭琼雅
张延瑞
李健
王春荣
丁松泽
ZHAO Junbo;YUAN Lin;ZHOU Yinglei;ZHANG Haihui;GUO Qiongya;ZHANG Yanrui;LI Jian;WANG Chunrong;DING Songze(Department of Gastroenterology and Hepatology,People’s Hospital of Zhengzhou University,Henan Provincial People’s Hospital,Zhengzhou 450003,China)
出处
《胃肠病学和肝病学杂志》
CAS
2020年第12期1437-1440,共4页
Chinese Journal of Gastroenterology and Hepatology
基金
国家自然科学基金-联合项目(U1604174)
河南省卫生计生委-省部共建项目(201701023)
河南省卫生计生科研创新人才工程项目(51282)
河南省科技厅-基础和前沿研究计划项目(142300410050)。
