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Article

Unveiling atypical diagnoses: when whole-genome analysis performed for refractory infantile hypomagnesemia reveals primary hyperoxaluria.

Pediatric nephrology (Berlin, Germany) - 1 Jan 2025

Kayal Dima, Vedrine Enzo, Goursaud Claire, Sellier-Leclerc Anne-Laure, Acquaviva-Bourdain Cécile, Bertholet-Thomas Aurelia, Bacchetta Justine

Abstract excerpt

BACKGROUND: Genetic testing is increasingly recognized as crucial in inherited nephropathies. Here, we report on an atypical presentation of a complex tubulopathy that led to an unexpected diagnosis of primary hyperoxaluria type 1 (PH1). CASE DIAGNOSIS: At 2 weeks of age, a premature boy with stunted growth was diagnosed with complex tubulopathy associating hyponatremia, hypokalemia, hypomagnesemia,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39088056
DOI: 10.1007/s00467-024-06467-6

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