Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria:A case report  

作　　者：Hanqing Huang Leiqin Cai Xinhua Li Shuru Chen 

机构地区：[1]Department of Infectious Diseases and Key Laboratory of Liver Disease of Guangdong Province,The Third Affiliated Hospital of Sun Yat-sen University,Guangzhou,Guangdong,China [2]Department of Gastroenterology,People's Hospital of Longhua District of Shenzhen,Shenzhen,Guangdong,China [3]Guang Dong Clinical Research Center for Metabolic Diseases,Department of Endocrinology,Sun Yat-sen Memorial Hospital,Sun Yat-sen University,Guangzhou,Guangdong,China

出　　处：《Liver Research》2022年第2期116-120,共5页肝脏研究（英文）

基　　金：the Guangdong Key Field R&D Plan of China(2019B020228001);the 5010 Project of Clinical Research in Sun Yat-sen University,China(No.2018024).

摘　　要：Erythropoietic protoporphyria(EPP)is a rare inherited disease caused by partial deficiency activity of the enzyme ferrochelatase(FECH),resulting in excessive accumulation of protoporphyrin IX in erythrocyte and tissues.Here,we report a patient with photosensitive dermatitis and acute icteric hepatitis caused by EPP,whose clinical and biochemical results successfully improved following 2-month treatment with glucose load,ursodeoxycholic acid capsules,and cholestyramine powder.This case provides a reference for a combination therapy strategy for patients with liver and skin injury caused by EPP.

关 键 词：Erythropoietic protoporphyria(EPP) Inherited disease Photosensitive dermatitis JAUNDICE Ferrochelatase(FECH) Liver injury Icteric hepatitis 

分 类 号：R512.6[医药卫生—内科学]