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Case Reports
Familial focal segmental glomerulosclerosis: mutation in inverted formin 2 mimicking Alport syndrome.
- I M Rood, E M H F Bongers, D Lugtenberg, I H H T Klein, E J Steenbergen, Wetzels J F M JF, and J K J Deegens.
- Department of Nephrology, Radboud University Medical Centre, Nijmegen.
- Neth J Med. 2016 Feb 1; 74 (2): 82-5.
AbstractFocal segmental glomerulosclerosis (FSGS) is one of the most common patterns of glomerular injury. FSGS can be caused by mutations in genes encoding proteins that play key roles in the function of the podocyte and glomerular basement membrane. In this case report we present a family with FSGS initially suspected to be Alport syndrome. Genetic analysis according to the Dutch guidelines of FSGS revealed a mutation in INF2.
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