Criteria for Early Identification of Aceruloplasminemia

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概要

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• A 52-year-old Japanese woman being treated for type 1 diabetes showed forgetfulness and microcytic anemia with a high serum ferritin concentration. Serum and brain radiological examinations revealed aceruloplasminemia, which was confirmed by genetic testing. Aceruloplasminemia is characterized by the triad of retinal degeneration, diabetes mellitus, and adult-onset disorder of the extrapyramidal system. Though physicians should treat such patients earlier, it is difficult to diagnose the disease before the presentation of neurological symptoms. Despite the presence of microcytic anemia, aceruloplasminemia patients usually have a high serum ferritin concentration due to the complete absence of ceruloplasmin ferroxidase activity. Thus, physicians should consider aceruloplasminemia when diabetic patients present with microcytic anemia and a high serum ferritin concentration.

著者

• Kogawa Kazuhiko

  Department of Medicine and Biosystemic Sciences, Graduate School of Medical Sciences, Kyushu Univers

• Nakano Makiko

  Department Of Chemistry Sophia University

• Ono Junko

  Department Of Clinical Chemistry And Laboratory Medicine Faculty Of Medicine Fukuoka University

• Takenoshita Hiromasa

  Department Of Endocrinology And Diabetes Mellitus School Of Medicine Fukuoka University

• Anzai Keizo

  Department Of Endocrinology And Diabetes Mellitus School Of Medicine Fukuoka University

• Akehi Yuko

  Department Of Endocrinology And Diabetes Mellitus School Of Medicine Fukuoka University

• Yoshida Ryoko

  Department Of Endocrinology And Diabetes Mellitus School Of Medicine Fukuoka University

• Yoshida Kunihiro

  Department of Brain Disease Research, Shinshu University School of Medicine, Japan

• Yoshida Kunihiro

  Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan

• Ogimoto Masaro

  Department of Endocrinology and Diabetes, Fukuoka University School of Medicine, Japan

• Nakano Makiko

  Department of Endocrinology and Diabetes, Fukuoka University School of Medicine, Japan

• Anzai Keizo

  Department of Endocrinology and Diabetes, Fukuoka University School of Medicine, Japan

• Ono Junko

  Department of Endocrinology and Diabetes, Fukuoka University School of Medicine, Japan

• Takenoshita Hiromasa

  Department of Endocrinology and Diabetes, Fukuoka University School of Medicine, Japan

• Kogawa Kazuhiko

  Department of Endocrinology and Diabetes, Fukuoka University School of Medicine, Japan

• Akehi Yuko

  Department of Endocrinology and Diabetes, Fukuoka University School of Medicine, Japan

• Akehi Yuko

  Department of Endocrinology and Diabetes Medicine, Fukuoka University School of Medicine, Japan

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