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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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
格式: 文件
语言:English
出版: Frontiers Media S.A. 2022-07-01
丛编:Frontiers in Pediatrics
主题:
nephrotic syndrome
focal segmental glomerulosclerosis
collapsing FSGS
nucleoporin genes
APOL1
在线阅读: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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