| H00948 | |
| H number | H00948 |
| Name | Renal hypouricemia |
| Description | 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. |
| Category | Urinary system disease |
| Network | - |
| Gene | (RHUC1) SLC22A12 [HSA:116085] [KO:K08208] (RHUC2) SLC2A9 [HSA:56606] [KO:K08146] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: GB90.4Y MeSH: C537757 OMIM: 220150 612076 |
| Reference | PMID:19926891 AUTHORS 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 TITLE Homozygous SLC2A9 mutations cause severe renal hypouricemia. JOURNAL J Am Soc Nephrol 21:64-72 (2010) DOI:10.1681/ASN.2009040406 PMID:21810765 AUTHORS 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 TITLE Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. JOURNAL Nephrol Dial Transplant 27:1035-41 (2012) DOI:10.1093/ndt/gfr419 PMID:20810651 AUTHORS 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 TITLE Human sodium phosphate transporter 4 (hNPT4/SLC17A3) as a common renal secretory pathway for drugs and urate. JOURNAL J Biol Chem 285:35123-32 (2010) DOI:10.1074/jbc.M110.121301 |