title: [A case of erythropoietic protoporphyria with severe liver dysfunction].
abstract: A 27-year-old man was admitted to our hospital for evaluation and treatment of liver dysfunction with jaundice and hepatosplenomegaly. The patient had severe photosensitivity from childhood. Upper gastrointestinal endoscopy revealed mild esophageal varices. The clinical manifestations, analyses of the urine and blood for porphyrins and skin biopsy led us to a diagnosis of erythropoietic protoporphyria. Because of acute deterioration of liver function, living donor liver transplantation was performed. The resected liver revealed cirrhosis. We report a rare case of erythropoietic protoporphyria with severe liver dysfunction and present a review of the literature.
authors.affiliation: Department of Gastroenterology, Japan Red Cross Hospital Wakayama Medical Center. kousukeminaga@yahoo.co.jp
authors.forename: Kousuke
authors.initials: K
authors.lastname: Minaga
authors.forename: Takahisa
authors.initials: T
authors.lastname: Kayahara
authors.forename: Yoshihide
authors.initials: Y
authors.lastname: Ueda
authors.forename: Kazuo
authors.initials: K
authors.lastname: Ono
authors.forename: Takeshi
authors.initials: T
authors.lastname: Seta
authors.forename: Shunji
authors.initials: S
authors.lastname: Urai
authors.forename: Yoshito
authors.initials: Y
authors.lastname: Uenoyama
authors.forename: Yukitaka
authors.initials: Y
authors.lastname: Yamashita
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Chiba
mesh_terms: D000328:Adult; D006801:Humans; D008107:Liver Diseases / Q000209:etiology*; D008297:Male; D046351:Protoporphyria, Erythropoietic / Q000150:complications*