Abstract
Familial renal hypouricemia is a hereditary disease characterized by extraordinary high renal uric acid (UA) clearance and is associated with acute renal failure (ARF). A 17-year-old Japanese male developed ARF after anerobic exercise. Renal function improved completely after approximately 2 weeks of hydration treatment. After remission, hypouricemia became evident (1.0 mg/dL) from the initial level of UA (4.8 mg/dL) and fractional excretion of uric acid (FEUA) was >50%. His parents showed normal levels of UA and FEUA. Polymerase chain reaction of a urate anion exchanger known to regulate UA level [SLC22A12 gene: UA transporter 1 (URAT1)] demonstrated compound heterozygous mutations (Q297X and R90H). Thus, we describe a Japanese male with hypouricemia complicated by anerobic exercise-induced ARF, with definite demonstration of a genetic abnormality in the responsible gene, URAT1.
Similar content being viewed by others
References
Erley CM, Hirschberg RR, Hoefer W, et al. Acute renal failure due to uric acid nephropathy in a patient with renal hypouricemia. Klin Wochenschr. 1989;67:308–12.
Ohta T, Sakano T, Ogawa T, et al. Exercise-induced acute renal failure with renal hypouricemia: a case report and a review of the literature. Clin Nephrol. 2002;58:313–6.
Uribarri J, Oh MS. Renal hypouricemia and absorptive hypercalciuria: a real syndrome. Nephron. 1993;63(2):172–5.
Ishikawa I. Acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise in patients with or without renal hypouricemia. Nephron. 2002;91:559–70.
Igarashi T, Sekine T, Sugimura H, et al. Acute renal failure after exercise in a child with renal hypouricaemia. Pediatr Nephrol. 1993;7:292–3.
Hisanaga S, Kawamura M, Uchida T, et al. Exercise-induced renal failure in a patient with hyperuricosuric hypouricemia. Nephron. 1994;66:475–6.
Enomoto A, Wempe MF, Tsuchida H, et al. Molecular identification of a novel carnitine transporter specific to human testis. Insights into the mechanism of carnitine recognition. J Biol Chem. 2002;277:36262–71.
Ichida K, Hosoyamada M, Hisatome I, 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;15:164–73.
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):744–51.
Van Peenen HJ. Causes of hypouricemia. Ann Intern Med. 1973;78:977–8.
Hisatome I, Ogino K, Kotake H, Ishiko R, Saito M, Hasegawa J, Mashiba H, Nakamoto S. Cause of persistent hypouricemia in outpatients. Nephron. 1989;51:13–6.
Komoda F, Sekine T, Inatomi J, Enomoto A, Endou H, Ota T, Matsuyama T, Ogata T, Ikeda M, Awazu M, Muroya K, Kamimaki I, Igarashi T. The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia. Pediatr Nephrol. 2004;19:728–33.
Iwai N, Mino Y, Hosoyamada M, Tago N, Kokubo Y, Endou H. A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. Kidney Int. 2004;66:935–94.
Yeun JY, Hasbargen JA. Renal hypouricemia: prevention of exercise-induced acute renal failure and a review of the literature. Am J Kidney Dis. 1995;25:937–46.
Murakami T, Kawakami H, Fukuda M, Shiigi H. Recurrence of acute renal failure and renal hypouricemia. Pediatr Nephrol. 1993;7:772–3.
Author information
Authors and Affiliations
Corresponding author
About this article
Cite this article
Ochi, A., Takei, T., Ichikawa, 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 16, 316–319 (2012). https://doi.org/10.1007/s10157-011-0557-3
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10157-011-0557-3