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

BMC Pediatrics

Volumn 14, Issue 1, 2014, Pages

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

^a CHILDREN S HOSPITAL OF ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Acute kidney injury; Gene mutation; Idiopathic renal hypouricemia; SLC2A9

Indexed keywords

CERULOPLASMIN; COPPER; MYOGLOBIN; URATE; URATE TRANSPORTER; URIC ACID; CREATININE; PROTEIN; SLC2A9 PROTEIN; UNCLASSIFIED DRUG;

ACUTE KIDNEY FAILURE; ARTICLE; CASE REPORT; CERULOPLASMIN BLOOD LEVEL; CONSERVATIVE TREATMENT; COPPER BLOOD LEVEL; EXON; FEMALE; GENE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPOURICEMIA; IDIOPATHIC DISEASE; IDIOPATHIC RENAL HYPOURICEMIA; NONSENSE MUTATION; SLC2A9 GENE; URIC ACID BLOOD LEVEL; ABDOMINAL PAIN; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BROTHER; CELL DEGENERATION; CHILD; CREATININE BLOOD LEVEL; DISEASE SEVERITY; ECHOGRAPHY; EXERCISE INDUCED ACUTE KIDNEY INJURY; FAMILY; FATHER; FOLLOW UP; GENE MUTATION; GENETIC DISORDER; HETEROZYGOTE; HOMOZYGOTE; HOSPITAL ADMISSION; KIDNEY BIOPSY; KIDNEY FUNCTION; LOW BACK PAIN; MOTHER; NAUSEA; RARE DISEASE; RECURRENT DISEASE; RELAPSE; SCHOOL CHILD; SEQUENCE ANALYSIS; TUBULAR EPITHELIAL CELL DEGENERATION; URIC ACID URINE LEVEL; VOMITING;

ACUTE KIDNEY INJURY; CHILD; EXERCISE; FEMALE; GLUCOSE TRANSPORT PROTEINS, FACILITATIVE; HUMANS; MUTATION; PEDIGREE; RECURRENCE; RENAL TUBULAR TRANSPORT, INBORN ERRORS; URINARY CALCULI;

EID: 84927914513     PISSN: None     EISSN: 14712431     Source Type: Journal    
DOI: 10.1186/1471-2431-14-73     Document Type: Article

References (27)

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, 14739288.
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, 14694169.
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, 23386035.
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, 18327257.
6. 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. Homozygous SLC2A9 mutations cause severe renal hypouricemia. J Am Soc Nephrol 2010, 21(1):64-72. 10.1681/ASN.2009040406, 2799278, 19926891.
7. Sebesta I, Stiburkova B, Bartl J, Ichida K, Hosoyamada M, Taylor J, Marinaki A. Diagnostic tests for primary renal hypouricemia. Nucleosides Nucleotides Nucleic Acids 2011, 30(12):1112-1116. 10.1080/15257770.2011.611483, 22132965.
8. Jeannin G, Chiarelli N, Gaggiotti M, Ritelli M, Maiorca P, Quinzani S, Verzeletti F, Possenti S, Colombi M, Cancarini G. Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. BMC Med Genet 2014, 15(1):3. 3890613, 24397858.
9. Schwartz GJ, Brion LP, Spitzer A. The use of plasma creatinine concentration for estimating glomerular filtration rate in infants, children, and adolescents. Pediatr Clin North Am 1987, 34(3):571-590.
10. Erley CM, Hirschberg RR, Hoefer W, Schaefer K. Acute renal failure due to uric acid nephropathy in a patient with renal hypouricemia. Klin Wochenschr 1989, 67(5):308-312. 10.1007/BF01892900, 2709741.
11. Yeun JY, Hasbargen JA. Renal hypouricemia: prevention of exercise-induced acute renal failure and a review of the literature. Am J Kidney Dis 1995, 25(6):937-946. 10.1016/0272-6386(95)90579-0, 7771493.
12. Murakami T, Kawakami H, Fukuda M, Furukawa S. Patients with renal hypouricemia are prone to develop acute renal failure-why?. Clin Nephrol 1995, 43(3):207-208.
13. Arikyants N, Sarkissian A, Hesse A, Eggermann T, Leumann E, Steinmann B. Xanthinuria type I: a rare cause of urolithiasis. Pediatr Nephrol 2007, 22(2):310-314.
14. Stiburkova B, Krijt J, Vyletal P, Bartl J, Gerhatova E, Korinek M, Sebesta I. Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I. Clin Chim Acta 2012, 413(1-2):93-99.
15. Phay JE, Hussain HB, Moley JF. Cloning and expression analysis of a novel member of the facilitative glucose transporter family, SLC2A9 (GLUT9). Genomics 2000, 66(2):217-220. 10.1006/geno.2000.6195, 10860667.
16. 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, Nonoyama S, Kanai Y, Shinomiya N. Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. Am J Hum Genet 2008, 83(6):744-751. 10.1016/j.ajhg.2008.11.001, 2668068, 19026395.
17. Shima Y, Nozu K, Nozu Y, Togawa H, Kaito H, Matsuo M, Iijima K, Nakanishi K, Yoshikawa N. Recurrent EIARF and PRES with severe renal hypouricemia by compound heterozygous SLC2A9 mutation. Pediatrics 2011, 127(6):e1621-1625. 10.1542/peds.2010-2592, 21536615.
18. Stiburkova B, Taylor J, Marinaki AM, Sebesta I. Acute kidney injury in two children caused by renal hypouricaemia type 2. Pediatr Nephrol 2012, 27(8):1411-1415. 10.1007/s00467-012-2174-0, 22527535.
19. Ochi A, Takei T, Ichikawa A, Kojima C, Moriyama T, Itabashi M, Mochizuki T, Taniguchi A, Nitta K. A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1. Clin Exp Nephrol 2011, 16(2):316-319.
20. Kim YH, Cho JT. A case of exercise-induced acute renal failure with G774A mutation in SCL22A12 causing renal hypouricemia. J Korean Med Sci 2011, 26(9):1238-1240. 10.3346/jkms.2011.26.9.1238, 3172664, 21935282.
21. Tanaka M, Itoh K, Matsushita K, Matsushita K, Wakita N, Adachi M, Nonoguchi H, Kitamura K, Hosoyamada M, Endou H, Tomita K. Two male siblings with hereditary renal hypouricemia and exercise-induced ARF. Am J Kidney Dis 2003, 42(6):1287-1292. 10.1053/j.ajkd.2003.08.032, 14655203.
22. Anzai N, Ichida K, Jutabha P, Kimura T, Babu E, Jin CJ, Srivastava S, Kitamura K, Hisatome I, Endou H, Sakurai H. Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URATv1 (SLC2A9) in humans. J Biol Chem 2008, 283(40):26834-26838. 10.1074/jbc.C800156200, 18701466.
23. Stiburkova B, Ichida K, Sebesta I. Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia. Mol Genet Metab 2011, 102(4):430-435. 10.1016/j.ymgme.2010.12.016, 21256783.
24. 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. Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. Nephrol Dial Transplant 2012, 27(3):1035-1041. 10.1093/ndt/gfr419, 21810765.
25. Finney H, Newman DJ, Thakkar H, Fell JM, Price CP. Reference ranges for plasma cystatin C and creatinine measurements in premature infants, neonates, and older children. Arch Dis Child 2000, 82(1):71-75. 10.1136/adc.82.1.71, 1718178, 10630919.
26. Takeda Y, Abe A, Nakanishi S, Umezu M, Hirano K, Hayakawa H, Ohno I, Ichida K, Yamaguchi Y, Hosoya T, Fukagawa M. Two cases of nephrotic syndrome (NS)-induced acute kidney injury (AKI) associated with renal hypouricemia. Clin Nephrol 2011, 76(1):78-82.
27. Bhasin B, Stiburkova B, De Castro-Pretelt M, Beck N, Bodurtha JN, Atta MG. Hereditary renal hypouricemia: a new role for allopurinol?. Am J Med 2014, 127(1):e3-4.