Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

@article{Buescher2012MutationsIP,
  title={Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.},
  author={Anja Katrin Buescher and Martin Konrad and Mato Nagel and Oliver Witzke and Andreas Kribben and Peter Friedrich Hoyer and Stefanie Weber},
  journal={Clinical nephrology},
  year={2012},
  volume={78 1},
  pages={47-53}
}
BACKGROUND AND AIMS Several genes have been identified to be causative for the disease in a subset of patients with focal segmental glomerulosclerosis (FSGS) and nephrotic syndrome (NS). Mutations in genes with autosomal dominant inheritance mostly affect adolescent or adult patients. In rare cases recessive mutations in NPHS2 are associated with late-onset FSGS. Hereditary FSGS is associated with poor renal survival and low rates of disease recurrence after renal transplantation. Aim of the… CONTINUE READING
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