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Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review

  • Published:2014-03-14 Issue:1 Volume:14 Page:
  • ISSN:1471-2431
  • Container-title:BMC Pediatrics
  • language:en
  • Short-container-title:BMC Pediatr

Author:

Shen Huijun,Feng Chunyue,Jin Xia,Mao Jianhua,Fu Haidong,Gu Weizhong,Liu Ai’min,Shu Qiang,Du Lizhong

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference27 articles.

1. Enomoto A, Kimura H, Chairoungdua A, Shigeta Y, Jutabha P, Cha SH, Hosoyamada M, Takeda M, Sekine T, Igarashi T, Matsuo H, Kikuchi Y, Oda T, Ichida K, Hosoya T, Shimokata K, Niwa T, Kanai Y, Endou H: Molecular identification of a renal urate anion exchanger that regulates blood urate levels. Nature. 2002, 417 (6887): 447-452.

2. Augustin R, Carayannopoulos MO, Dowd LO, Phay JE, Moley JF, Moley KH: Identification and characterization of human glucose transporter-like protein-9 (GLUT9): alternative splicing alters trafficking. J Biol Chem. 2004, 279 (16): 16229-16236. 10.1074/jbc.M312226200.

3. Ichida K, Hosoyamada M, Hisatome I, Enomoto A, Hikita M, Endou H, Hosoya T: 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 (1): 164-173. 10.1097/01.ASN.0000105320.04395.D0.

4. Stiburkova B, Sebesta I, Ichida K, Nakamura M, Hulkova H, Krylov V, Kryspinova L, Jahnova H: Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis. Eur J Hum Genet. 2013, 21 (10): 1067-1073. 10.1038/ejhg.2013.3.

5. Vitart V, Rudan I, Hayward C, Gray NK, Floyd J, Palmer CN, Knott SA, Kolcic I, Polasek O, Graessler J, Wilson JF, Marinaki A, Riches PL, Shu X, Janicijevic B, Smolej-Narancic N, Gorgoni B, Morgan J, Campbell S, Biloglav Z, Barac-Lauc L, Pericic M, Klaric IM, Zgaga L, Skaric-Juric T, Wild SH, Richardson WA, Hohenstein P, Kimber CH, Tenesa A, et al: SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. Nat Genet. 2008, 40 (4): 437-442. 10.1038/ng.106.

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