カンノ　ヒトシ   KAN'NO Hitoshi   菅野　仁    所属   医学部 医学科    職種   特任教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	A case of congenital dyserythropoietic anemia type 1 in a Japanese adult with a CDAN1 gene mutation and an inappropriately low serum hepcidin-25 level.
掲載誌名	正式名：Internal medicine (Tokyo, Japan) 略　 称：Intern Med ISSNコード：1349-7235(Electronic)0918-2918(Linking)
巻・号・頁	51(8),pp.917-20
著者・共著者	Kawabata Hiroshi, Doisaki Sayoko, Okamoto Akio, Uchiyama Tatsuki, Sakamoto Soichiro, Hama Asahito, Hosoda Kiminori, Fujikura Junji, Kanno Hitoshi, Fujii Hisaichi, Tomosugi Naohisa, Nakao Kazuwa, Kojima Seiji, Takaori-Kondo Akifumi
発行年月	2012/06
概要	We describe the first case of genetically diagnosed congenital dyserythropoietic anemia (CDA) type 1 in a Japanese man. The patient had hemolytic anemia since he was a child, and he developed diabetes, hypogonadism, and liver dysfunction in his thirties, presumably from systemic iron overload. When he was 48 years old a diagnosis was finally made by genetic analysis that revealed a homozygous mutation of CDAN1 gene (Pro1129Leu). His serum hepcidin-25 level was inappropriately low. We conclude that physicians should be aware of the possibility of CDA in a patient with anemia and systemic iron overload at any age.
文献番号	22504250