The Turkish Journal of Pediatrics 2012 , Vol 54 , Num 6
Erythropoietic Protoporphyria and Early Onset of Cholestasis
1Department of Gastroenterology, Research Center for Children and Adolescents Health, Zahedan University of Medical Sciences, Zahedan, 2Children’s Medical Center, Pediatrics Center of Excellence, 3Molecular Immunology Research Center, Department of Immunology, School of Medicine, 4Research Center for Immunodeficiencies, Tehran University of Medical Sciences, Tehran, Iran. E-mail: Erythropoietic protoporphyria (EPP) is an inherited defect of mitochondrial ferrochelatase. This defect results in accumulation of protoporphyrin in erythrocytes, plasma, liver, and skin, which causes severe photosensitivity. Liver disease can occur in 1-4% of the patients with EPP, usually after at least a decade of photosensitivity. Herein, we describe a 1.5-year-old child with EPP with severe photosensitivity, heart abnormalities and early onset of cholestatic liver disease, whose clinical condition improved gradually after using ursodeoxycholic acid. It seems that liver disease in EPP patients is not limited to the late phases of the disease and could develop in childhood and early phases of EPP. Awareness among physicians has a major role in the early detection and prevention of mistreatment of EPP in case of its combination with other abnormalities. Keywords : erythropoietic protoporphyria, cholestasis, hepatic failure, ursodeoxycholic acid.
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