KEGG DISEASE: 腎性低尿酸血症

DISEASE: 腎性低尿酸血症

エントリ

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

階層分類

ICD-11 による疾患分類 [BR:jp08403]
16 泌尿生殖器系の疾患
  尿路系の疾患
   GB90  明示された腎または尿管の疾患
    H00948  腎性低尿酸血症

病因遺伝子

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

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

文献

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

文献

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

LinkDB

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