文献詳細
文献概要
今月の主題 カルシウム・リン・ビタミンDの再評価 各論 〈病態生理と検査〉
低リン血症
著者: 道上敏美1
所属機関: 1大阪府立母子保健総合医療センター研究所環境影響部門
ページ範囲:P.993 - P.997
文献購入ページに移動健常成人においては,通常,血清リン値は2.5~4.5mg/dl程度に維持されている.小児の血清リン値は成人よりも高い.低リン血症は,①腸管からのリン吸収の低下,②腎臓からのリン喪失,③細胞内へのリンの移動により生じる.腎臓からのリン喪失は,Fanconi症候群や種々の遺伝性低リン血症性くる病,腫瘍随伴性低リン血症性骨軟化症など,様々な病態に伴う.低リン血症の中には,線維芽細胞増殖因子23(FGF23)の作用の過剰に基づく病態がいくつか存在し,FGF23の測定は低リン血症の鑑別診断において有用である.
参考文献
1) Quarles LD : Endocrine functions of bone in mineral metabolism regulation. J Clin Invest 118:3820-3828,2008
2) Hruska KA : Hyperphosphatemia and Hypophosphatemia. Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 6th edition (Favus MJ, et al ed), American Society for Bone and Mineral Research, Washington, DC,pp233-243,2006
3) Lloyd SE, Pearce SH, Fisher SE, et al : A common molecular basis for three inherited kidney stone diseases. Nature 379:445-449,1996
4) The HYP Consortium : A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 11:130-136,1995
5) The ADHR Consortium : Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.Nat Genet 26:345-348,2000
6) Feng JQ, Ward LM, Liu S, et al : Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nat Genet 38:1310-1315,2006
7) Lorenz-Depiereux B, Schnabel D, Tiosano D, et al : Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet 86:267-272,2010
8) Endo I, Fukumoto S, Ozono K, et al : Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients : proposal of diagnostic criteria using FGF23 measurement. Bone 42:1235-1239,2008
9) Lorenz-Depiereux B, Benet-Pages A, Eckstein G, et al : Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.Am J Hum Genet 78:193-201,2006
10) Shimada T, Mizutani S, Muto T, et al : Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci USA 98:6500-6505,2001
11) Riminucci M, Collins MT, Fedarko NS, et al : FGF-23 in fibrous dysplasia of bone and relationship to renal phosphate wasting. J Clin Invest 112:683-692,2003
12) Sato K, Shiraki M : Saccharated ferric oxide-induced osteomalacia in Japan : iron-induced osteopathy due to nephropathy. Endocr J 45:431-439,1998
13) Ito N, Shimizu Y, Suzuki H, et al : Clinical utility of systemic venous sampling of FGF23 for identifying tumours responsible for tumour-induced osteomalacia. J Intern Med 268:390-394,2010
掲載誌情報