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Updated: May 21, 2025

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Granulomatous nephropathy: have you thought about genetics?

Enzo Vedrine1, Lucie Bessenay2, Carole Philipponnet3

  • 1Service de Néphrologie, Centre de Référence Des Maladies Rénales Rares, Filières de Santé Maladies Rares ORKID Et ERKNet, Hôpital Édouard-Herriot, Hospices Civils de Lyon, Lyon, France. enzo.vedrine@chu-lyon.fr.

Pediatric Nephrology (Berlin, Germany)
|March 19, 2025
PubMed
Summary

This case study reveals a rare instance of granulomatous nephropathy linked to nephronophthisis (NPHP) in a teenager. Genetic testing confirmed NPHP, emphasizing its role in early-onset kidney disease.

Keywords:
Granulomatous nephropathyMonogenic nephropathyNephronophthisisPangenomic analysis

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