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Published on: September 1, 2015
Molecular pathways and therapies in autosomal-dominant polycystic kidney disease
Takamitsu Saigusa1, P Darwin Bell2
1Department of Medicine, Division of Nephrology, Medical University of South Carolina, Charleston, South Carolina; and Ralph Johnson VA Medical Center, Charleston, South Carolina.
Insights
Autosomal-dominant polycystic kidney disease (ADPKD) is a common inherited kidney disorder causing cysts and potential kidney failure. Research on primary cilia and polycystins advances understanding of ADPKD pathogenesis and therapeutic targets.
Area of Science:
- Nephrology
- Genetics
- Cell Biology
Background:
- Autosomal-dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder.
- ADPKD is characterized by the development of multiple kidney cysts, often leading to kidney failure.
- Primary cilia and polycystins are key factors in ADPKD pathogenesis.
Purpose of the Study:
- To review the clinical and basic aspects of ADPKD.
- To discuss current concepts regarding the pathogenesis of ADPKD.
- To evaluate potential therapeutic targets and future clinical study challenges.
Main Methods:
- Literature review of clinical and basic research on ADPKD.
- Synthesis of current understanding of ADPKD pathogenesis.
- Analysis of potential therapeutic strategies and research directions.
Main Results:
- ADPKD is a prevalent inherited renal disease with significant morbidity.
- Primary cilia dysfunction and polycystin mutations are central to cyst formation.
- Understanding pathogenesis guides the identification of therapeutic targets.
Conclusions:
- ADPKD pathogenesis is increasingly understood through research on cilia and polycystins.
- Targeting specific pathways offers potential therapeutic avenues.
- Further clinical studies are needed to overcome challenges and develop effective treatments.
Abstract:
Autosomal-dominant polycystic kidney disease (ADPKD) is the most prevalent inherited renal disease, characterized by multiple cysts that can eventually lead to kidney failure. Studies investigating the role of primary cilia and polycystins have significantly advanced our understanding of the pathogenesis of PKD. This review will present clinical and basic aspects of ADPKD, review current concepts of PKD pathogenesis, evaluate potential therapeutic targets, and highlight challenges for future clinical studies.
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