Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment

Christian R Halvorson1, Matthew S Bremmer, Stephen C Jacobs

  • 1Department of Surgery, University of Maryland School of Medicine, Baltimore, MD, USA. chalv001@umaryland.edu

Insights

Autosomal dominant and recessive polycystic kidney disease (ADPKD and ARPKD) cause significant health problems. New therapies target the genetic and molecular causes of these kidney diseases, addressing abnormal cell growth and fluid secretion.

Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are significant genetic kidney disorders.
  • These conditions are characterized by severe morbidity and mortality, impacting numerous patients worldwide.

Purpose of the Study:

  • To review the current understanding of the pathophysiology of ADPKD and ARPKD.
  • To discuss novel, targeted therapies developed based on recent advances in genetic and molecular pathogenesis.

Main Methods:

  • Literature review of recent advances in polycystic kidney disease research.
  • Analysis of genetic and molecular mechanisms underlying ADPKD and ARPKD.
  • Evaluation of current and emerging therapeutic strategies.

Main Results:

  • Understanding the genetic and molecular basis of ADPKD and ARPKD has led to targeted therapies.
  • These therapies aim to disrupt specific cell signaling pathways involved in disease progression.
  • Key pathways targeted include those regulating cell proliferation, dedifferentiation, apoptosis, and fluid secretion.

Conclusions:

  • Recent insights into polycystic kidney disease pathogenesis have enabled the development of targeted treatments.
  • These novel therapies offer potential to mitigate the severe morbidity and mortality associated with ADPKD and ARPKD.
  • Continued research into disease mechanisms is crucial for further therapeutic advancements.

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