Familial focal segmental glomerulosclerosis: mutation in inverted formin 2 mimicking Alport syndrome
SourceNetherlands Journal of Medicine, 74, 2, (2016), pp. 82-5
Article / Letter to editor
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Netherlands Journal of Medicine
SubjectRadboudumc 11: Renal disorders RIHS: Radboud Institute for Health Sciences; Radboudumc 12: Sensory disorders RIMLS: Radboud Institute for Molecular Life Sciences; Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences
Focal 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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