Novel URAT1 mutations caused acute renal failure after exercise in two Chinese families with renal hypouricemia

Gene

Volumn 512, Issue 1, 2013, Pages 97-101

  Li, Zongzhe ^a   Ding, Hu ^a   Chen, Chen ^a   Chen, Yan ^a   Wang, Dao Wen ^a   Lv, Yongman ^a  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

Author keywords

Exercise induced acute renal failure; GLUT9; Renal hypouricemia; SLC22A12; SLC2A9; URAT1

Indexed keywords

GLUCOSE TRANSPORTER 2; PROTEIN; UNCLASSIFIED DRUG; URATE TRANSPORTER 1;

ACUTE KIDNEY FAILURE; ADULT; ARTICLE; CASE REPORT; CHINA; CODON; ERYTHROCYTE COUNT; EXON; FAMILY; FANCONI RENOTUBULAR SYNDROME; FEMALE; GENE IDENTIFICATION; GENE MUTATION; HUMAN; HYPOURICEMIA; KIDNEY GRAFT; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN URINE LEVEL; WILSON DISEASE;

ACUTE KIDNEY INJURY; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; EXERCISE; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; ORGANIC ANION TRANSPORTERS; ORGANIC CATION TRANSPORT PROTEINS; PEDIGREE; RENAL TUBULAR TRANSPORT, INBORN ERRORS; URINARY CALCULI; YOUNG ADULT;

EID: 84868610772     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.09.115     Document Type: Article

References (18)

1. Dinour D., et al. Homozygous SLC2A9 mutations cause severe renal hypouricemia. J. Am. Soc. Nephrol. 2010, 21:64-72.
2. Doring A., et al. SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. Nat. Genet. 2008, 40:430-436.
3. Enomoto A., et al. Molecular identification of a renal urate anion exchanger that regulates blood urate levels. Nature 2002, 417:447-452.
4. Ichida K., et al. Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. J. Am. Soc. Nephrol. 2004, 15:164-173.
5. Ichida K., et al. Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese. Clin. Genet. 2008, 74:243-251.
6. Johnson R.J., Titte S., Cade J.R., Rideout B.A., Oliver W.J. Uric acid, evolution and primitive cultures. Semin. Nephrol. 2005, 25:3-8.
7. Komoda F., et al. The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia. Pediatr. Nephrol. 2004, 19:728-733.
8. Kuriki S., et al. SLC22A12 W258X frequency according to serum uric acid level among Japanese health checkup examinees. Nagoya J. Med. Sci. 2011, 73:41-48.
9. Li C., et al. Multiple single nucleotide polymorphisms in the human urate transporter 1 (hURAT1) gene are associated with hyperuricaemia in Han Chinese. J. Med. Genet. 2010, 47:204-210.
10. Matsuo H., et al. Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. Am. J. Hum. Genet. 2008, 83:744-751.
11. Mima A., et al. Acute renal failure after exercise in a Japanese sumo wrestler with renal hypouricemia. Am. J. Med. Sci. 2008, 336:512-514.
12. Nishizaki N., et al. Hereditary renal hypouricemia: a cause of calcium oxalate urolithiasis in a young female. Clin. Nephrol. 2012, 77:161-163.
13. Ochi A., et al. A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1. Clin. Exp. Nephrol. 2012, 16:316-319.
14. Shima Y., et al. Recurrent EIARF and PRES with severe renal hypouricemia by compound heterozygous SLC2A9 mutation. Pediatrics 2011, 127:e1621-e1625.
15. Sperling O. Hereditary renal hypouricemia. Mol. Genet. Metab. 2006, 89:14-18.
16. Stiburkova B., Ichida K., Sebesta I. Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia. Mol. Genet. Metab. 2011, 102:430-435.
17. Stiburkova B., Taylor J., Marinaki A.M., Sebesta I. Acute kidney injury in two children caused by renal hypouricaemia type 2. Pediatr. Nephrol. 2012, 27:1411-1415.
18. Yan M.T., Cheng C.J., Chen J.S., Lin S.H. The case: a young man with acute kidney injury after exercise. The diagnosis: exercise induced acute kidney injury in hereditary renal hypouricemia. Kidney Int. 2010, 77:935-936.