Treatment strategy for erythropoietic protoporphyria accompanied by severe abdominal pain and liver injury  

作　　者：Xiaoxin Wu Xiumei Zhou Shuai Zhao Keting He Wenxin Zhoudi Shangci Chen Xiaowei Xu 

机构地区：[1]State Key Laboratory for Diagnosis and Treatment of Infectious Diseases,National Clinical Research Centre for Infectious Diseases,Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases,The First Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou,Zhejiang,China [2]Department of Infectious Diseases,People's Hospital of Pujiang County,Jinhua,Zhejiang,China

出　　处：《Portal Hypertension & Cirrhosis》2024年第1期36-38,共3页门静脉高压与肝硬化（英文）

基　　金：supported by the Zhejiang Provincial Natural Science Foundation of China(No.LQ21H190004);the National Natural Science Foundation of China(No.82300004).

摘　　要：To the Editor,Erythropoietic protoporphyria(EPP)is a genetic disease caused by a lack of the enzyme ferrochelatase(FECH)in the heme biosynthesis pathway due to genetic defects.FECH deficiency is caused by a deleterious FECH variant in transposition to the frequently occurring hypomorphic allele or by the presence of biallelic pathogenic variants.1 EPP could lead to abnormal production and excretion of protoporphyrin IX,2 causing clinical manifestations such as skin damage and liver injury.3–5.

关 键 词：LIVER DAMAGE CLINICAL 

分 类 号：R575[医药卫生—消化系统]