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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.
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.
Area of Science:
- Nephrology
- Genetics
- Ophthalmology
Background:
- Focal segmental glomerulosclerosis (FSGS) is a leading cause of nephrotic syndrome, often progressing to kidney failure.
- Steroid-resistant FSGS occurs in 10-20% of cases.
- Mutations in the NUP93 gene are linked to FSGS-related nephrotic syndrome.
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