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Literature DB >> 28509149

A case of renal hypouricemia and a G774A gene mutation causing acute renal injury that was improved by hemodialysis.

Shuma Hirashio^1,2, Kyoko Yamada³, Takayuki Naito⁴, Takao Masaki³.

Abstract

A 16-year-old man came to our hospital complaining of loin pain after a middle-distance race. Following admission, his renal dysfunction worsened rapidly, requiring several hemodialysis sessions. A renal biopsy showed no change in the glomeruli, although interstitial edema was observed. Following the recovery of renal function, we confirmed that his uric acid level was abnormally low and urate clearance was abnormality high. Gene analysis showed that he had a G774A mutation which dominated the SLC22A12 gene encoding the urate transporter 1.

Entities: Chemical Disease Gene Mutation Species

Keywords: Acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise (ALPE); Gene mutation (SLC22A12, G774A); Renal hypouricemia; Urate transporter 1 (URAT1)

Year: 2012 PMID： 28509149 PMCID： PMC5413641 DOI： 10.1007/s13730-012-0007-4

Source DB: PubMed Journal: CEN Case Rep ISSN： 2192-4449

16 in total

Review 1. Roles of organic anion transporters (OATs) and a urate transporter (URAT1) in the pathophysiology of human disease.

Authors: Atsushi Enomoto; Hitoshi Endou
Journal: Clin Exp Nephrol Date: 2005-09 Impact factor: 2.801

Review 2. Exercise-induced acute renal failure with renal hypouricemia: a case report and a review of the literature.

Authors: T Ohta; T Sakano; T Ogawa; J Kato; Y Awaya; H Kihara; Y Kinoshita
Journal: Clin Nephrol Date: 2002-10 Impact factor: 0.975

3. Patients with renal hypouricemia with exercise-induced acute renal failure and chronic renal dysfunction.

Authors: Y Kikuchi; H Koga; Y Yasutomo; Y Kawabata; E Shimizu; M Naruse; S Kiyama; H Nonoguchi; K Tomita; Y Sasatomi; S Takebayashi
Journal: Clin Nephrol Date: 2000-06 Impact factor: 0.975

4. Recurrence of acute renal failure and renal hypouricaemia.

Authors: T Murakami; H Kawakami; M Fukuda; H Shiigi
Journal: Pediatr Nephrol Date: 1993-12 Impact factor: 3.714

5. Evidence for patchy renal vasoconstriction in man: observation by CT scan.

Authors: I Ishikawa; Y Saito; A Shinoda; Z Onouchi
Journal: Nephron Date: 1981 Impact factor: 2.847

6. Molecular identification of a renal urate anion exchanger that regulates blood urate levels.

Authors: Atsushi Enomoto; Hiroaki Kimura; Arthit Chairoungdua; Yasuhiro Shigeta; Promsuk Jutabha; Seok Ho Cha; Makoto Hosoyamada; Michio Takeda; Takashi Sekine; Takashi Igarashi; Hirotaka Matsuo; Yuichi Kikuchi; Takashi Oda; Kimiyoshi Ichida; Tatsuo Hosoya; Kaoru Shimokata; Toshimitsu Niwa; Yoshikatsu Kanai; Hitoshi Endou
Journal: Nature Date: 2002-04-14 Impact factor: 49.962

A case of renal hypouricemia and a G774A gene mutation causing acute renal injury that was improved by hemodialysis.

Review 1. Roles of organic anion transporters (OATs) and a urate transporter (URAT1) in the pathophysiology of human disease.

Review 2. Exercise-induced acute renal failure with renal hypouricemia: a case report and a review of the literature.

3. Patients with renal hypouricemia with exercise-induced acute renal failure and chronic renal dysfunction.

4. Recurrence of acute renal failure and renal hypouricaemia.

5. Evidence for patchy renal vasoconstriction in man: observation by CT scan.

6. Molecular identification of a renal urate anion exchanger that regulates blood urate levels.

7. Acute renal failure due to uric acid nephropathy in a patient with renal hypouricemia.

8. A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.

9. Renal handling of uric acid in normal subjects by means of the pyrazinamide and probenecid tests.

10. Renal handling of uric acid in normal and gouty subject: evidence for a 4-component system.

Review 1. Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to Gout.