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Updated: Jun 3, 2026

Glomerular Outgrowth as an Ex Vivo Assay to Analyze Pathways Involved in Parietal Epithelial Cell Activation
Published on: August 19, 2020
Familial collapsing focal segmental glomerulosclerosis
V Liakopoulos1, A Huerta, S Cohen
1Departments of Medicine and Division of Nephrology of Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
Abstract:
The majority of patients with non-HIV-related collapsing focal segmental glomerular sclerosis (FSGS) have idiopathic disease. Only a few genetic forms associated with rare syndromes have been described in families. Here we report two families with multiple members who have collapsing FSGS with no clear associated secondary etiology. Genetic analysis revealed a defect in the TRPC6 gene in one family, but excluded all known common inherited podocyte defects in the other family. The course and response to treatment differed dramatically among members of the same family.
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