Work

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

Year: 2025

Type: article

Abstract: gene. Although we cannot exclude another cause, such as a genetic defect outside the genomic regions screened by our exome analyses, for the bilateral optic atrophy observed in our patient, this suggests that this association is not coincidental. Our case report highlights the importance of genetic testing in cases of steroid-resistant nephrotic syndrome that present with syndromic congenital features.

Source: Kidney Medicine

DOI: 10.1016/j.xkme.2025.101114