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
スポンサーリンク
概要
- 論文の詳細を見る
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.
- 社団法人 日本内科学会の論文
著者
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Hama Asahito
Department Of Pediatrics Nagoya University Graduate School Of Medicine
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Takaori-kondo Akifumi
Department Of Hematology And Oncology Graduate School Of Medicine Kyoto University
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UCHIYAMA Tatsuki
Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University
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Tomosugi Naohisa
Division Of Advanced Medicine Medical Research Institute Kanazawa Medical University
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Kanno Hitoshi
Department Of Applied Chemistry National Defense Academy
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Fujikura Junji
Department Of Medicine And Clinical Science Division Of Endocrinology And Metabolism Kyoto Universit
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Fujii Hisaichi
Department Of Laboratory Medicine Tokyo Women's Medical University
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Nakao Kazuwa
Department Of Endcrinology And Metabolism Kyoto University Graduate School Of Medicine
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Sakamoto Soichiro
Department Of Hematology And Oncology Graduate School Of Medicine Kyoto University
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Kojima Seiji
Department Of Biology University Of Utah
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Doisaki Sayoko
Department Of Pediatrics Nagoya University Graduate School Of Medicine
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Kawabata Hiroshi
Department of Electronic Science and Engineering, Kyoto University, Kyoto 606-8501, Japan
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Hosoda Kiminori
Faculty of Human Health Science, Kyoto University Graduate School of Medicine, Japan
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Fujikura Junji
Department of Medicine and Clinical Science, Kyoto University Graduate School of Medicine, Japan
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Okamoto Akio
Nantan General Hospital, Japan
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Doisaki Sayoko
Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan
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Uchiyama Tatsuki
Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University, Japan
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Tomosugi Naohisa
Division of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, Japan
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Kojima Seiji
Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan
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