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Clinical significance of hypouricemia in children and adolescents

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Abstract

Background

Although hyperuricemia is a widely studied condition with well-known effects on the kidneys, hypouricemia is usually considered a biochemical abnormality of no clinical significance despite the fact that it can be a sign or major finding of serious metabolic or genetic diseases affecting kidney health. In this study, we aimed to investigate and emphasize the clinical significance of hypouricemia.

Methods

Patients were evaluated retrospectively for persistent hypouricemia defined as serum uric acid concentrations of < 2 mg/dL on at least 3 different occasions. According to the blood and urine uric acid (UA) levels, the patients were classified as having hypouricemia due to UA underproduction vs. overexcretion. Demographic, clinical, and genetic characteristics were noted for analysis.

Results

Fourteen patients (n = 14; M/F 8/6) with persistent hypouricemia were identified. Hypouricemia due to underproduction was the cause of 42.8% of these cases. All of the patients with a uric acid level of 0 mg/dL (n = 4) had hypouricemia due to underproduction. The median serum uric acid level was 0.85 (0–1.6) mg/dL. Isolated hypouricemia and hypouricemia with metabolic acidosis were equally distributed. Among the patients with hypouricemia due to underproduction, the final diagnoses were xanthine dehydrogenase deficiency (n = 5) and alkaptonuria (n = 1). In the overexcretion group, the final diagnoses were nephropathic cystinosis (n = 6), distal renal tubular acidosis (n = 1), and hereditary renal hypouricemia (n = 1). The diagnostic lag was longer for patients with isolated hypouricemia compared to other patients (p = 0.001).

Conclusions

Hypouricemia may reflect underlying genetic or metabolic diseases, early diagnosis of which could help preserve kidney function.

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Data availability

The datasets generated during and/or analysed during the current study are not publicly available but are available from the corresponding author on reasonable request.

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Author information

Authors and Affiliations

  1. Department of Pediatric Nephrology, Van Training and Research Hospital, Van, Turkey

    Adem Yasin Köksoy

  2. Department of Genetics, Bursa Yüksek İhtisas Training and Research Hospital, Bursa, Turkey

    Özlem Görükmez

  3. Department of Metabolism Unit, Bursa Yüksek İhtisas Training and Research Hospital, Bursa, Turkey

    Sevil Dorum

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  1. Adem Yasin Köksoy
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  2. Özlem Görükmez
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  3. Sevil Dorum
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Correspondence to Adem Yasin Köksoy.

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Köksoy, A.Y., Görükmez, Ö. & Dorum, S. Clinical significance of hypouricemia in children and adolescents. Pediatr Nephrol 38, 3017–3025 (2023). https://doi.org/10.1007/s00467-023-05948-4

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  • DOI: https://doi.org/10.1007/s00467-023-05948-4

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