title: Erythropoietic protoporphyria and early onset of cholestasis.
abstract: 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.
authors.affiliation: Department of Gastroenterology, Research Center for Children and Adolescents Health, Zahedan University of Medical Sciences, Zahedan, Iran; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. rezaei_nima@tums.ac.ir.
authors.forename: Mani Jeh
authors.initials: MJ
authors.lastname: Khalili
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Farahmand
authors.forename: Armin
authors.initials: A
authors.lastname: Hirbod-Mobarakeh
authors.forename: Azizollah
authors.initials: A
authors.lastname: Yousefi
authors.forename: Soheila
authors.initials: S
authors.lastname: Sotoudeh
authors.forename: Maryam
authors.initials: M
authors.lastname: Monajemzadeh
authors.forename: Anahita
authors.initials: A
authors.lastname: Razaghian
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D002779:Cholestasis / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008099:Liver / Q000378:metabolism*; D008297:Male; D046351:Protoporphyria, Erythropoietic / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D011524:Protoporphyrins / Q000378:metabolism*; D013997:Time Factors
chemical_list: D011524:Protoporphyrins