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 tissue...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.展开更多
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).
文摘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.
