Kidney disease in nail–patella syndrome

@article{Lemley2008KidneyDI,
  title={Kidney disease in nail–patella syndrome},
  author={Kevin V Lemley},
  journal={Pediatric Nephrology (Berlin, Germany)},
  year={2008},
  volume={24},
  pages={2345 - 2354}
}
Nail–patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B. It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities. However, one of the most serious manifestations of NPS is kidney disease, which may be present in up to 40% of affected individuals. Although LMX1B is a developmental LIM-homeodomain transcription factor, it is expressed in post-natal life in the glomerular podocyte, suggesting a… CONTINUE READING