Nationwide survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases in Japan: prevalence, biochemical data and treatment
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- Endo Itsuro
- Department of Hematology, Endocrinology & Metabolism Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima 770-8503 Japan
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- Fukumoto Seiji
- Fujii Memorial Institute of Medical Sciences, Tokushima University, Tokushima 770-8503, Japan
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- Ozono Keiichi
- Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan
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- Namba Noriyuki
- Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan
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- Inoue Daisuke
- Third Department of Medicine, Teikyo University Chiba Medical Center, Ichihara 299-0111, Japan
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- Okazaki Ryo
- Third Department of Medicine, Teikyo University Chiba Medical Center, Ichihara 299-0111, Japan
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- Yamauchi Mika
- Internal Medicine 1, Shimane University Faculty of Medicine, Izumo 693-8501, Japan
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- Sugimoto Toshitsugu
- Internal Medicine 1, Shimane University Faculty of Medicine, Izumo 693-8501, Japan
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- Minagawa Masanori
- Department of Endocrinology, Chiba Children’s Hospital, Chiba 266-0007, Japan
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- Michigami Toshimi
- Department of Bone and Mineral Research, Research Institute, Osaka Medical Center for Maternal and Child Health, Izumi 594-1101, Japan
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- Nagai Masaki
- Department of Public Health, Saitama Medical University Faculty of Medicine, Iruma 350-0495, Japan
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- Matsumoto Toshio
- Fujii Memorial Institute of Medical Sciences, Tokushima University, Tokushima 770-8503, Japan
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抄録
A nationwide epidemiologic survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases was conducted in 2010 to clarify the prevalence and the clinical presentations of the disorders. A questionnaire inquiring the experience of patients with these diseases was sent to randomly selected hospitals throughout Japan. The estimated annual incidence of the diseases was 117 cases (95% CI 75 - 160), 55 males (95% CI 30 - 81) and 62 females (95% CI 40 - 84). Tumor-induced osteomalacia (TIO) and X-linked hypophosphatemic rickets (XLH) were the most prevalent causes of acquired and genetic FGF23-related hypophosphatemic diseases, respectively. The estimated incidence of XLH was about 1 in 20,000. We have also collected clinical data of the patients by a secondary survey. These patients showed FGF23 levels of above 30 pg/mL by intact assay in the presence of hypophosphatemia. While complete resection of responsible tumors improved biochemical abnormalities in patients with TIO, treatment with phosphate and/or active vitamin D3 did not normalize serum phosphate and tubular maximum transport of phosphate in patients with XLH. Our results suggest that there is no racial difference in the incidence of XLH. While FGF23 measurement is useful for the diagnosis of FGF23-related hypophosphatemic diseases, the better management is necessary especially for patients with genetic hypophosphatemic rickets caused by excessive actions of FGF23.
収録刊行物
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- Endocrine Journal
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Endocrine Journal 62 (9), 811-816, 2015
一般社団法人 日本内分泌学会