Adult-Onset Nephrotic Syndrome and Optic Nerve Atrophy Associated With NUP93 Mutation

Marc Scheen1, Grégoire Arnoux2, Philippe Khau Van Kien3

  • 1Department of Nephrology and Renal Transplantation, Hôpitaux universitaires de Genève, Rue Gabrielle-Perret-Gentil 4, 1205 Genève, Switzerland.

Kidney Medicine
|November 10, 2025
PubMed
Summary

A rare genetic mutation in the NUP93 gene caused steroid-resistant nephrotic syndrome and optic nerve atrophy in a young adult. This case highlights the need for genetic testing in complex nephrotic syndrome cases.

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