遗传代谢性肝病的临床基因诊断  

Clinical diagnosis of genetic liver disease

作　　者：陈淑如[1] 崇雨田[1] 李新华[1] Chen Shuru;Chong Yutian;Li Xinhua(Department of Infectious Diseases,the Third Affiliated Hospital of Sun Yat-sen University,Guangzhou 510630,China)

机构地区：[1]中山大学附属第三医院感染性疾病科,广州510630

出　　处：《中华肝脏病杂志》2018年第12期894-897,共4页Chinese Journal of Hepatology

基　　金：国家重点研发计划(2018YFC1315400);国家自然科学基金(81400580).

摘　　要：遗传代谢性肝病临床表型差异显著,尽管每种疾病的发病率不高,由于疾病谱广,总体受累人群并不少见,临床应予重视。这类疾病临床罕见,相对认识不足,临床误诊问题较为突出,现以临床实践过程中所遇到的问题为出发点,探讨一下遗传代谢性肝病的临床基因诊断。The clinical phenotype of genetic liver disease is significantly different. Although the incidence of disease is low, because of the wide spectrum of diseases, the overall affected population is not rare. Therefore, clinical concern is a matter of alarm. Additionally, these diseases rarity in clinical practice has covered the recognition, causing increased problem of clinical misdiagnosis. In accordance with the problems encountered in clinical practice of our hospital, we explore the clinical diagnosis of genetic liver disease.

关 键 词：遗传 基因 诊断 遗传代谢陛肝病 

分 类 号：R575[医药卫生—消化系统] R440[医药卫生—内科学]