以肝功能异常为主要表现的红细胞生成性原卟啉病1例  

Erythropoietic protoporphyria with abnormal liver function as main manifestation:a case report

作　　者：马莉 李洪杰[1] 段雪飞[1] Ma Li;Li Hongjie;Duan Xuefei(Department of General Medicine,Beijing Ditan Hospital,Capital Medical University,Beijing 100015,China)

机构地区：[1]首都医科大学附属北京地坛医院综合科,北京100015

出　　处：《中国肝脏病杂志（电子版）》2021年第3期68-72,共5页Chinese Journal of Liver Diseases：Electronic Version

基　　金：国家“十三五”传染病防治科技重大专项(2018ZX10715-005);北京市卫生系统高层次卫生技术人才培养项目(2014-3-093)。

摘　　要：红细胞生成性原卟啉病(erythropoietic protoporphyria,EPP)是一种罕见的由遗传异常所致的血液病,可表现为多系统损伤。以肝病为主要表现的EPP极为罕见,临床易漏诊、误诊。现报道1例以肝功能异常为主要表现的EPP病例,期望提高肝病科医师对EPP的全方位认识,加强多学科协作,争取早诊断、早治疗。Erythropoietic protoporphyria(EPP)is a rare blood disease caused by genetic abnormalities,which may manifest as multiple systemic damage.EPP with hepatopathy as the main manifestation is rare and is easy to be missed or misdiagnosed.This paper reported a case of EPP with abnormal liver function as the main manifestation.Through this case report,we hope to improve the comprehensive understanding of the disease by hepatologists,strengthen multidisciplinary cooperation,and strive for early diagnosis and treatment.

关 键 词：原卟啉病 红细胞生成性 肝功能异常 

分 类 号：R589.8[医药卫生—内分泌]