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Case Reports
. 2011 Apr;75(4):362-8.
doi: 10.5414/cn106544.

Familial collapsing focal segmental glomerulosclerosis

V Liakopoulos  1 , A Huerta, S Cohen, M R Pollak, R A Sirota, K Superdock, G B Appel
Affiliations
Case Reports

Familial collapsing focal segmental glomerulosclerosis

V Liakopoulos et al. Clin Nephrol. 2011 Apr.

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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Figures

Figure 1
Figure 1
Figure 1A. Family history of the first family. Example: ○ = female; □ = male; formula image = FSGS Figure 1B. Family history of the second family. Example: ○ = female; □ = male; formula image = FSGS; formula image = trace proteinuria
See this image and copyright information in PMC

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