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Article

Genetic Spectrum of Nephrotic Syndrome: Impact of Podocytopathy in Adult Life.

Advances in chronic kidney disease - 1 May 2022

Massengill Susan, Trachtman Howard

Abstract excerpt

A substantial number of patients with focal segmental glomerulosclerosis (FSGS) have a pathogenic genetic mutation in a podocyte protein as the cause of their disease. The mutations can affect a wide range of cell functions including the actin cytoskeleton, cell adhesion and motility, mitochondrial function, and nuclear pore proteins. The likelihood of a genetic cause declines with age, from approximately 30% in...

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PMID: 36084968
DOI: 10.1053/j.ackd.2022.04.005

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