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

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...

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Bibliographic Details
Main Authors: 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: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Pediatrics
Subjects:
nephrotic syndrome
focal segmental glomerulosclerosis
collapsing FSGS
nucleoporin genes
APOL1
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.915174/full

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https://www.frontiersin.org/articles/10.3389/fped.2022.915174/full

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