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Recurrent exercise-induced acute kidney injury associated with hypouricemia: a case report and literature review.
Zhou, Jie; Zhang, Min; Xie, Qionghong; Xu, Ningxin; Li, Mingxin; Zhang, Ming; Hao, Chuanming.
Afiliación
  • Zhou J; Division of Nephrology, Huashan Hospital, Fudan University, Shanghai, China.
  • Zhang M; Department of Nephrology, Shuguang Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China.
  • Xie Q; Division of Nephrology, Huashan Hospital, Fudan University, Shanghai, China. zhaxxmm@hotmail.com.
  • Xu N; Division of Nephrology, Huashan Hospital, Fudan University, Shanghai, China.
  • Li M; Division of Nephrology, Huashan Hospital, Fudan University, Shanghai, China.
  • Zhang M; Division of Nephrology, Huashan Hospital, Fudan University, Shanghai, China.
  • Hao C; Division of Nephrology, Huashan Hospital, Fudan University, Shanghai, China.
BMC Nephrol ; 24(1): 384, 2023 12 21.
Article en En | MEDLINE | ID: mdl-38129773
ABSTRACT

BACKGROUND:

Hereditary renal hypouricemia (RHUC) is a heterogenous disorder characterized by defective uric acid (UA) reabsorption resulting in hypouricemia and increased fractional excretion of UA. RHUC is an important cause of exercise-induced acute kidney injury (EIAKI), nephrolithiasis and posterior reversible encephalopathy syndrome (PRES). We present here an unusual case of a patient with RHUC who presented with recurrent EIAKI and had two heterozygous mutations in the SLC2A9 gene. CASE PRESENTATION A 43-year old man was admitted to our clinic because of bilateral loin pain, nausea and sleeplessness for 3 days after strenuous exercise. The laboratory results revealed increased levels of blood urea nitrogen (BUN) (15 mmol/l) and serum creatinine (Scr) (450 µmol/l), while the UA level was extremely low at 0.54 mg/dl, and his fractional excretion of urate (FE-UA) was 108%. The patient had an episode of acute kidney injury after playing soccer approximately 20 years ago, and on routine physical examination, his UA was less than 0.50 mg/dl. In view of the marked hypouricemia and high FE-UA, a diagnosis of RHUC was suspected, which led us to perform mutational screening of the SLC22A12 and SLC2A9 genes. DNA sequencing revealed no mutation in SLC22A12 gene, but two heterozygous mutations in the SLC2A9 gene.

CONCLUSIONS:

This is a rare report of a patient with RHUC2 due to the mutation of SLC2A9. And this unique symptom of EIAKI and decreased or normal serum concentrations of UA warrant more attention as an early cue of RHUC.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transportadores de Anión Orgánico / Síndrome de Leucoencefalopatía Posterior / Lesión Renal Aguda Límite: Adult / Humans / Male Idioma: En Revista: BMC Nephrol Asunto de la revista: NEFROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transportadores de Anión Orgánico / Síndrome de Leucoencefalopatía Posterior / Lesión Renal Aguda Límite: Adult / Humans / Male Idioma: En Revista: BMC Nephrol Asunto de la revista: NEFROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido