Collapsing Focal Segmental Glomerulosclerosis in Siblings With Compound Heterozygous Variants in NUP93 Expand the Spectrum of Kidney Phenotypes Associated With Nucleoporin Gene Mutations

BackgroundFocal segmental glomerulosclerosis (FSGS) is a major cause of end stage kidney disease, with the collapsing form having the worst prognosis. Study of families with hereditary FSGS has provided insight into disease mechanisms.MethodsIn this report, we describe a sibling pair with NUP93 muta...

Ausführliche Beschreibung

Bibliografische Detailangaben

Hauptverfasser:	Rachel K. Cason, Anna Williams, Megan Chryst-Stangl, Guanghong Wu, Kinsie Huggins, Kaye E. Brathwaite, Brandon M. Lane, Larry A. Greenbaum, Vivette D. D’Agati, Rasheed A. Gbadegesin
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Frontiers Media S.A. 2022-07-01
Schriftenreihe:	Frontiers in Pediatrics
Schlagworte:	nephrotic syndrome focal segmental glomerulosclerosis collapsing FSGS nucleoporin genes APOL1
Online-Zugang:	https://www.frontiersin.org/articles/10.3389/fped.2022.915174/full
Tags:	Tag hinzufügen Keine Tags, Fügen Sie das erste Tag hinzu!