临床肝胆病杂志2024，Vol.40Issue(3)：581-584,4.DOI:10.12449/JCH240323
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
摘要
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
吴振东,周国强,向燕,王先令,苏剑东,刘思纯..以肝硬化为主要表现的红细胞生成性原卟啉病1例报告[J].临床肝胆病杂志,2024,40(3):581-584,4.基金项目
东莞市社会发展科技面上项目(20221800902842) Dongguan City's Social Development Science and Technology(20221800902842) （20221800902842）
