Polycystic kidney disease

Polycystic kidney disease (PKD) is a genetic disorder whereby a large number of cysts develop primarily within the kidneys, but also in other organs. PKD can be autosomal dominant (one mutated gene required to develop the disease) or autosomal recessive (mutated genes are inherited from both parents leading to disease).

Latest Research and Reviews

News and Comment

  • Comments and Opinion |

    The function of polycystin proteins and the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD) are not well understood. Studies published in 2018 made important contributions to the understanding of genetic mechanisms, the structure of the polycystin complex and the roles of G-protein signalling and the immune system in ADPKD.

    • Vicente E. Torres
    •  & Peter C. Harris
  • News and Views |

    The polycystin complex structure has been solved at near-atomic resolution. Its surprising architecture provides new insights into the transient receptor potential (TRP) family of cation channels and the pathogenesis of autosomal dominant polycystic kidney disease. This discovery should have a transformative impact on the development of treatment strategies to cure the disease.

    • Paul A. Welling
  • News and Views |

    An unbiased functional gene knockout screen to identify genes implicated in Hedgehog signalling in primary cilia detected most components of the ciliary machinery and ciliopathy-associated genes, but no kidney-related ciliopathy genes. The 472 hits are a tremendous resource for identifying potential ciliopathy genes and for analysing ciliary function and signalling pathways.

    • Edgar A. Otto
  • Comments and Opinion |

    Technical advances in genome sequencing and association studies have yielded critical insights into the genetic architecture of kidney diseases. Here, I summarize four key studies from 2017 that deciphered the genetic basis of known and novel diseases and provided insights into the mechanisms of glomerular, developmental defects and manifestations of kidney disorders.

    • Olivier Devuyst