以肝硬化为主要表现的红细胞生成性原卟啉病1例报告  

Erythropoietic protoporphyria with liver cirrhosis as the main manifestation:A case report

作　　者：吴振东 周国强 向燕 王先令 苏剑东 刘思纯 WU Zhendong;ZHOU Guoqiang;XIANG Yan;WANG Xianling;SU Jiandong;LIU Sichun(Department of Gastroenterology,Dongguan Songshan Lake Tungwah Hospital,Dongguan,Guangdong 523808,China)

机构地区：[1]东莞松山湖东华医院消化内科,广东东莞523808

出　　处：《临床肝胆病杂志》2024年第3期581-584,共4页Journal of Clinical Hepatology

基　　金：东莞市社会发展科技面上项目(20221800902842)。

摘　　要：红细胞生成性原卟啉病(EPP)是一种罕见的遗传代谢性疾病,常累及皮肤、血液、神经系统,其中以肝功能严重损伤和急性腹痛为主要表现的EPP极为罕见。本文通过回顾1例EPP患者的临床资料及相关基因检测结果,探讨EPP的临床特点及致病基因,以提高肝病医师对该病的认识,争取早期诊断、早治疗。Erythropoietic protoporphyria(EPP)is a rare inherited metabolic disease that often involves skin,blood,and nervous systems,and EPP with the main manifestations of severe liver damage and acute abdominal pain is extremely rare.By reviewing the clinical data and genetic testing results of a patient with EPP,this article discusses the clinical features and pathogenic genes of this disease,in order to improve the understanding of the disease among hepatologists and achieve early diagnosis and treatment.

关 键 词：肝硬化 原卟啉病 红细胞生成性 诊断 治疗学 

分 类 号：R589.8[医药卫生—内分泌] R575.2[医药卫生—内科学]