Acute kidney injury in two children caused by renal hypouricaemia type 2

Pediatric Nephrology

Volumn 27, Issue 8, 2012, Pages 1411-1415

  Stiburkova, Blanka ^a   Taylor, Judy ^c   Marinaki, Anthony M ^c   Sebesta, Ivan ^a,b  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

Acute kidney injury; Renal hypouricemia; SLC2A9; Uric acid transporters

Indexed keywords

CREATININE; UREA; URIC ACID;

ACUTE KIDNEY FAILURE; ADOLESCENT; ARTICLE; BLOOD SAMPLING; CASE REPORT; CHILD; CLINICAL EXAMINATION; CREATININE BLOOD LEVEL; CREATININE CLEARANCE; GENE EXPRESSION; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HYPERTENSION; HYPOURICEMIA; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY FUNCTION TEST; KIDNEY HYPOURICEMIA TYPE 2; LABORATORY TEST; LOSS OF FUNCTION MUTATION; MALE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROGENY; RENOGRAPHY; SCHOOL CHILD; UNITED KINGDOM; UREA BLOOD LEVEL; URIC ACID BLOOD LEVEL; URINALYSIS; URINARY EXCRETION;

ACUTE KIDNEY INJURY; ADOLESCENT; CHILD; DNA MUTATIONAL ANALYSIS; GLUCOSE TRANSPORT PROTEINS, FACILITATIVE; HUMANS; MALE; MUTATION, MISSENSE; RENAL TUBULAR TRANSPORT, INBORN ERRORS; URIC ACID; URINARY CALCULI;

EID: 84863980287     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-012-2174-0     Document Type: Article

References (14)

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 (2002) Molecular identification of a renal urate anion exchanger that regulates blood urate levels. Nature 417:447-452 (Pubitemid 34563537)
2. 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, Donnelly LA, Fairbanks LD, Aringer M, McKeigue PM, Ralston SH, Morris AD, Rudan P, Hastie ND, Campbell H, Wright AF (2008) SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. Nat Genet 40:437-442 (Pubitemid 351450879)
3. Doring A, Gieger C, Mehta D, Gohlke H, Prokisch H, Coassin S, Fischer G, Henke K, Klopp N, Kronenberg F, Paulweber B, Pfeufer A, Rosskopf D, Volzke H, Illig T, Meitinger T, Wichmann HE, Meisinger C (2008) SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. Nat Genet 40:430-436 (Pubitemid 351454014)
4. Augustin R, Carayannopoulos MO, Dowd LO, Phay JE, Moley JF, Moley KH (2004) Identification and characterization of human glucose transporter-like protein-9 (GLUT9): alternative splicing alters trafficking. J Biol Chem 279:16229-16236 (Pubitemid 38509316)
5. Caulfield MJ, Munroe PB, O'Neill D, Witkowska K, Charchar FJ, Doblado M, Evans S, Eyheramendy S, Onipinla A, Howard P, Shaw-Hawkins S, Dobson RJ, Wallace C, Newhouse SJ, Brown M, Connell JM, Dominiczak A, Farrall M, Lathrop GM, Samani NJ, Kumari M, Marmot M, Brunner E, Chambers J, Elliott P, Kooner J, Laan M, Org E, Veldre G, Viigimaa M, Cappuccio FP, Ji C, Iacone R, Strazzullo P, Moley KH, Cheeseman C (2008) SLC2A9 is a high-capacity urate transporter in humans. PLoS Med 5(10):e197
6. Dinour D, Bahn A, Ganon L, Ron R, Geifman-Holtzman O, Knecht A, Gafter U, Rachamimov R, Sela BA, Burckhardt G, Holtzman EJ (2010) Homozygous SLC2A9 mutations cause severe renal hypouricemia. J Am Soc Nephrol 21:64-72
7. 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 (2012) Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. Nephrol Dial Transplant 27:1035-1041
8. Matsuo H, Chiba T, Nagamori S, Nakayama A, Domoto H, Phetdee K, Wiriyasermkul P, Kikuchi Y, Oda T, Nishiyama J, Nakamura T, Morimoto Y, Kamakura K, Sakurai Y, Non-oyama S, Kanai Y, Shinomiya N (2008) Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. Am J Hum Genet 83:744-751
9. Shima Y, Nozu K, Nozu Y, Togawa H, Kaito H, Matsuo M, Iijima K, Nakanishi K, Yoshikawa N (2011) Recurrent EIARF and PRES with severe renal hypouricemia by compound heterozygous SLC2A9 mutation. Pediatrics 127:e1621-e1625
10. Anzai N, Ichida K, Jutabha P, Kimura T, Babu E, Jin CJ, Srivastava S, Kitamura K, Hisatome I, Endou H, Sakurai H (2008) Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URATv1 (SLC2A9) in humans. J Biol Chem 283:26834-26838
11. Stiburkova B, Ichida K, Sebesta I (2011) Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia. Mol Genet Metab 102:430-435
12. Dehghan A, Köttgen A, Yang Q, Hwang SJ, Kao WL, Rivadeneira F, Boerwinkle E, Levy D, Hofman A, Astor BC, Benjamin EJ, van Duijn CM, Witteman JC, Coresh J, Fox CS (2008) Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. Lancet 372(9654):1953-1961
13. Bell DW, Yeung RS, Bohlander SK, Cheng JQ, Jin F, Testa JR (1995) A microdissection library of the rat renal carcinoma gene region. Cytogenet Cell Genet 70:92-94
14. Naitoh M, Suzuki H, Murakami M, Matsumoto A, Ichihara A, Nakamoto H, Yamamura Y, Saruta T (1993) Arginine vasopressin produces renal vasodilation via V2 receptors in conscious dogs. Am J Physiol 265:R934-R942