Nationwide survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases in Japan: prevalence, biochemical data and treatment

Endocrine Journal

Noriyuki Namba²  Itsuro Endo⁵  Daisuke Inoue⁷  Mika Yamauchi¹  Toshio Matsumoto⁴  Toshitsugu Sugimoto¹  Seiji Fukumoto⁴  Keiichi Ozono²  Masanori Minagawa⁸  Masaki Nagai⁶  Ryo Okazaki⁷  Toshimi Michigami³ 

[1] Internal Medicine 1, Shimane University Faculty of Medicine, Izumo 693-8501, Japan;Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan;Department of Bone and Mineral Research, Research Institute, Osaka Medical Center for Maternal and Child Health, Izumi 594-1101, Japan;Fujii Memorial Institute of Medical Sciences, Tokushima University, Tokushima 770-8503, Japan;Department of Hematology, Endocrinology & Metabolism Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima 770-8503 Japan;Department of Public Health, Saitama Medical University Faculty of Medicine, Iruma 350-0495, Japan;Third Department of Medicine, Teikyo University Chiba Medical Center, Ichihara 299-0111, Japan;Department of Endocrinology, Chiba Children’s Hospital, Chiba 266-0007, Japan

关键词: Hypophosphatemia;    Rickets;    Osteomalacia;    FGF23;   

DOI  :  10.1507/endocrj.EJ15-0275

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(10)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.

【 授权许可】

Unknown