Cargando…
Steroid-Resistant Nephrotic Syndrome Caused by NUP93 Pathogenic Variants
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 a...
Autores principales: | Wasilewska, Anna, Rybi-Szuminska, Agnieszka, Dubiela, Pawel |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10532377/ https://www.ncbi.nlm.nih.gov/pubmed/37762751 http://dx.doi.org/10.3390/jcm12185810 |
Ejemplares similares
-
Mutations in nuclear pore genes NUP93, NUP205, and XPO5 cause steroid resistant nephrotic syndrome
por: Braun, Daniela A., et al.
Publicado: (2016) -
Serum RANKL, osteoprotegerin (OPG), and RANKL/OPG ratio in nephrotic children
por: Wasilewska, Anna, et al.
Publicado: (2010) -
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model
por: Bierzynska, Agnieszka, et al.
Publicado: (2022) -
Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report
por: Sandokji, Ibrahim, et al.
Publicado: (2019) -
Steroid-resistant nephrotic syndrome in infants caused by a novel compound heterozygous mutation of the NUP93: A CARE case report
por: Zhao, Bo, et al.
Publicado: (2021)