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
吴振东 1周国强 1向燕 1王先令 1苏剑东 1刘思纯1
作者信息
- 1. 东莞松山湖东华医院消化内科,广东 东莞 523808
- 折叠
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.
Abstract
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Key words
Liver Cirrhosis/Protoporphyria,Erythropoietic/Diagnosis/Therapeutics引用本文复制引用
基金项目
东莞市社会发展科技面上项目(20221800902842)
出版年
2024
国家科技期刊平台
NSTL
万方数据