KEGG DISEASE: Renal hypouricemia

KEGG

DISEASE: Renal hypouricemia

Entry

H00948                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
16 Diseases of the genitourinary system
  Diseases of the urinary system
   GB90  Certain specified disorders of kidney or ureter
    H00948  Renal hypouricemia

Gene

(RHUC1) SLC22A12 [HSA:116085] [KO:K08208]
(RHUC2) SLC2A9 [HSA:56606] [KO:K08146]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

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

Reference

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

Reference

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

LinkDB

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