Polycystic kidney disease

Definition

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

  • Reviews |

    Autosomal dominant polycystic kidney disease (ADPKD) is characterized by a variable rate of cyst development, variable kidney function decline and variable presentation of renal and extrarenal manifestations. In this Review, the authors discuss pharmacological and non-pharmacological interventions for the treatment of patients with ADPKD and provide recommendations for the management of renal complications.

    • Matthew B. Lanktree
    •  & Arlene B. Chapman
  • Research |

    Sudipto Roy, Carol Wicking, Carsten Bergmann and colleagues report that mutations in DZIP1L cause autosomal recessive polycystic kidney disease (ARPKD). Through studies of mouse and zebrafish models of DZIP1L loss of function, the authors demonstrate that DZIP1L is required for proper function of the periciliary diffusion barrier.

    • Hao Lu
    • , Maria C Rondón Galeano
    • , Elisabeth Ott
    • , Geraldine Kaeslin
    • , P Jaya Kausalya
    • , Carina Kramer
    • , Nadina Ortiz-Brüchle
    • , Nadescha Hilger
    • , Vicki Metzis
    • , Milan Hiersche
    • , Shang Yew Tay
    • , Robert Tunningley
    • , Shubha Vij
    • , Andrew D Courtney
    • , Belinda Whittle
    • , Elke Wühl
    • , Udo Vester
    • , Björn Hartleben
    • , Steffen Neuber
    • , Valeska Frank
    • , Melissa H Little
    • , Daniel Epting
    • , Peter Papathanasiou
    • , Andrew C Perkins
    • , Graham D Wright
    • , Walter Hunziker
    • , Heon Yung Gee
    • , Edgar A Otto
    • , Klaus Zerres
    • , Friedhelm Hildebrandt
    • , Sudipto Roy
    • , Carol Wicking
    •  & Carsten Bergmann
    Nature Genetics 49, 1025–1034
  • Research | | open

    Autosomal dominant polycystic kidney disease (ADPKD) is a life-threatening genetic disease that leads to renal failure. Here Hajarnis et al. show that miR-17 modulates cyst progression in ADPKD through metabolic reprogramming of mitochondria and its inhibition slows cyst development and improves renal functions.

    • Sachin Hajarnis
    • , Ronak Lakhia
    • , Matanel Yheskel
    • , Darren Williams
    • , Mehran Sorourian
    • , Xueqing Liu
    • , Karam Aboudehen
    • , Shanrong Zhang
    • , Kara Kersjes
    • , Ryan Galasso
    • , Jian Li
    • , Vivek Kaimal
    • , Steven Lockton
    • , Scott Davis
    • , Andrea Flaten
    • , Joshua A. Johnson
    • , William L. Holland
    • , Christine M. Kusminski
    • , Philipp E. Scherer
    • , Peter C. Harris
    • , Marie Trudel
    • , Darren P. Wallace
    • , Peter Igarashi
    • , Edmund C. Lee
    • , John R. Androsavich
    •  & Vishal Patel

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