| H00948 | |
| H番号 | H00948 |
| 名称 | 腎性低尿酸血症 |
| 概要 | Renal hypouricemia (RHUC) is a disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Renal urate reabsorption is controlled via two proximal tubular urate transporters: apical URAT1 (SLC22A12) and basolateral GLUT9 (SLC2A9). And it has been suggested that RHUC is caused by mutations in URAT1 or GLUT9. Most of patients were asymptomatic, but some had nephrolithiasis or were predisposed to exercise-induced acute renal failure. |
| カテゴリ | 泌尿器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (RHUC1) SLC22A12 [HSA:116085] [KO:K08208] (RHUC2) SLC2A9 [HSA:56606] [KO:K08146] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: GB90.4Y MeSH: C537757 OMIM: 220150 612076 |
| 文献 | PMID:19926891 著者 Dinour D, Gray NK, Campbell S, Shu X, Sawyer L, Richardson W, Rechavi G, Amariglio N, Ganon L, Sela BA, Bahat H, Goldman M, Weissgarten J, Millar MR, Wright AF, Holtzman EJ タイトル Homozygous SLC2A9 mutations cause severe renal hypouricemia. 雑誌 J Am Soc Nephrol 21:64-72 (2010) DOI:10.1681/ASN.2009040406 PMID:21810765 著者 Dinour D, Gray NK, Ganon L, Knox AJ, Shalev H, Sela BA, Campbell S, Sawyer L, Shu X, Valsamidou E, Landau D, Wright AF, Holtzman EJ タイトル Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. 雑誌 Nephrol Dial Transplant 27:1035-41 (2012) DOI:10.1093/ndt/gfr419 PMID:20810651 著者 Jutabha P, Anzai N, Kitamura K, Taniguchi A, Kaneko S, Yan K, Yamada H, Shimada H, Kimura T, Katada T, Fukutomi T, Tomita K, Urano W, Yamanaka H, Seki G, Fujita T, Moriyama Y, Yamada A, Uchida S, Wempe MF, Endou H, Sakurai H タイトル Human sodium phosphate transporter 4 (hNPT4/SLC17A3) as a common renal secretory pathway for drugs and urate. 雑誌 J Biol Chem 285:35123-32 (2010) DOI:10.1074/jbc.M110.121301 |