Steroid-Resistant Nephrotic Syndrome Caused by NUP93 Pathogenic Variants.

ABSTRACT:

Background

Although steroid therapy is a standard of care for nephrotic syndrome treatment, 15-20% of patients do not respond to it. Finding the genetic background is possible in >10% of steroid-resistant nephrotic syndrome (SRNS) cases. Variants in genes encoding nuclear pore complex proteins are a novel cause of paediatric steroid-resistant nephrotic syndrome (SRNS). Recent studies suggest NUP93 variants to be a significant cause of paediatric onset SRNS. The clinical data on certain variants and disease history are still very limited.

Methods and results

We report the SRNS case of a 12-year-old boy with two detected NUP93 variants, which are pathogenic and possibly pathogenic. The onset of the disease was early and severe. The patient was admitted to the pae

SUBMITTER: Wasilewska A 

PROVIDER: S-EPMC10532377 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature