| H00214 | |
| H番号 | H00214 |
| 名称 | 低リン血症性くる病 |
| 概要 | Hypophosphataemic rickets, also known as vitamin D resistant rickets, is a group of genetic disorders characterized by defective reabsorption of inorganic phosphorus by the renal tubules resulting in hypophosphatemia and rickets associated with mineralization defect. Fibroblast growth factor-23 (FGF23) regulates phosphate reabsorption in the kidney and therefore plays an essential role in phosphate balance in humans. There is a host of defects that ultimately lead to excess FGF23 levels and thereby cause renal phosphate wasting and hypophosphatemic rickets. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | (XLHR) PHEX [HSA:5251] [KO:K08636] (XLRH) CLCN5 [HSA:1184] [KO:K05012] (ADHR) FGF23 [HSA:8074] [KO:K22428] (ARHR1) DMP1 [HSA:1758] [KO:K23328] (ARHR2) ENPP1 [HSA:5167] [KO:K01513] (HHRH) SLC34A3 [HSA:142680] [KO:K14683] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | アルファカルシドール [DR:D01518] リン酸二水素ナトリウム一水和物・無水リン酸水素二ナトリウム [DR:D08815] |
| コメント | - |
| リンク | ICD-11: 5C63.22 ICD-10: E83.3 MeSH: D063730 D053098 OMIM: 307800 300554 193100 241520 613312 241530 |
| 文献 | PMID:18214537 著者 Pettifor JM タイトル What's new in hypophosphataemic rickets? 雑誌 Eur J Pediatr 167:493-9 (2008) DOI:10.1007/s00431-007-0662-1 PMID:17117305 著者 de Menezes Filho H, de Castro LC, Damiani D タイトル Hypophosphatemic rickets and osteomalacia. 雑誌 Arq Bras Endocrinol Metabol 50:802-13 (2006) DOI:10.1590/S0004-27302006000400025 PMID:7550339 (PHEX) タイトル A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. 雑誌 Nat Genet 11:130-6 (1995) DOI:10.1038/ng1095-130 PMID:8559248 (CLCN5) 著者 Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV タイトル A common molecular basis for three inherited kidney stone diseases. 雑誌 Nature 379:445-9 (1996) DOI:10.1038/379445a0 PMID:11062477 (FGF23) タイトル Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. 雑誌 Nat Genet 26:345-8 (2000) DOI:10.1038/81664 PMID:17033625 (DMP1) 著者 Lorenz-Depiereux B, Bastepe M, Benet-Pages A, Amyere M, Wagenstaller J, Muller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Juppner H, Strom TM タイトル DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. 雑誌 Nat Genet 38:1248-50 (2006) DOI:10.1038/ng1868 PMID:20137772 (ENPP1) 著者 Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R タイトル Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. 雑誌 Am J Hum Genet 86:273-8 (2010) DOI:10.1016/j.ajhg.2010.01.010 PMID:16358215 (SLC34A3) 著者 Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM タイトル Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. 雑誌 Am J Hum Genet 78:193-201 (2006) DOI:10.1086/499410 |