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Autosomal dominant polycystic kidney disease - clinical and genetic aspects

Nadja Bogdanova1, Arseni Markoff, Jürgen Horst

  • 1Institut für Humangenetik, UKM Münster, Germany.

Kidney & Blood Pressure Research
|November 19, 2002
PubMed

Insights

Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disorder causing cysts in organs like kidneys and liver. This review covers ADPKD

Area of Science:

  • Nephrology
  • Genetics
  • Internal Medicine

Background:

  • Autosomal dominant polycystic kidney disease (ADPKD) is a prevalent inherited disorder affecting 8-10% of end-stage renal disease cases globally.
  • ADPKD is a systemic condition manifesting as cysts in ductal organs, primarily kidneys and liver, alongside gastrointestinal and cardiovascular issues.

Purpose of the Study:

  • To review current knowledge on autosomal dominant polycystic kidney disease (ADPKD).
  • To summarize recent advancements in understanding ADPKD's genetic basis and pathogenic mechanisms.

Main Methods:

  • Comprehensive literature review of ADPKD research.
  • Synthesis of current data on epidemiology, pathogenesis, and genetics.

Main Results:

  • Significant progress has been made in identifying genetic foundations and pathogenic pathways of ADPKD.
  • ADPKD presents considerable clinical and genetic heterogeneity.

Conclusions:

  • This review consolidates current understanding of ADPKD's epidemiology, pathogenesis, genetics, heterogeneity, diagnostics, and treatment.
  • Further research into ADPKD's complex mechanisms is crucial for improved patient outcomes.

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