Idiopathic renal hypouricemia combined with repeated acute kidney injury: A case report and literature review

doi:10.3969/j.issn.1004-583X.2025.02.013

Abstract

Abstract:

Objective To investigate the clinical characteristics and diagnostic and treatment of idiopathic renal hypouricemia (iRHUC). Methods Clinical data of a patient who suffered from exercise-induced acute kidney injury (EIAKI) twice and was finally diagnosed with iRHUC by genetic testing were retrospectively collected. The clinical characteristics, diagnostic process, treatment options and prognosis were analyzed, and the relevant literatures were reviewed. Results A 23-year-old man suffered from acute kidney injury (AKI) twice after intensive exercise. The renal function returned to normal but hypouricemia persisted. Fractional excretion of uric acid (FEUA) was significantly elevated. The mutational analysis revealed a homozygous mutation in the SLC22A12 gene, and he was finally diagnosed with iRHUC. Conclusion iRHUC cases are not commonly reported, and we should strengthen our understanding of the disease to avoid missed diagnosis and misdiagnosis, so as to guide treatment and prevent complications.

Key words: acute kidney injury, renal hypouricemia, SLC22A12, gene mutation

CLC Number:

R692.5

Zhang Hui, Zhang Wenbo, Liang Wenqi, Huo Yanhong. Idiopathic renal hypouricemia combined with repeated acute kidney injury: A case report and literature review[J]. Clinical Focus, 2025, 40(2): 168-171.

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https://lchc.magtechjournal.com/EN/Y2025/V40/I2/168

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