Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.

@article{Gall2014GeneticsAP,
  title={Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.},
  author={Emilie Cornec-Le Gall and M. Audr{\'e}zet and Yannick Le Meur and Jian-Min Chen and Claude F{\'e}rec},
  journal={Human mutation},
  year={2014},
  volume={35 12},
  pages={1393-406}
}
Autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney disorder, is characterized by the progressive development and expansion of bilateral fluid-filled cysts derived from the renal tubule epithelial cells. Although typically leading to end-stage renal disease in late middle age, ADPKD represents a continuum, from neonates with hugely enlarged cystic kidneys to cases with adequate kidney function into old age. Since the identification of the first causative gene… CONTINUE READING