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Updated: Jul 7, 2026
07:35
Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
Update on autosomal dominant polycystic kidney disease
V E Torres1, S Rossetti, P C Harris
1Mayo Clinic College of Medicine, Rochester, MN 55905, USA. torres.vicente@mayo.edu
Minerva Medica
|February 27, 2008
Summary
Autosomal dominant polycystic kidney disease (ADPKD), a common genetic disorder, has seen significant research progress. Understanding its genetic causes and cellular mechanisms is paving the way for new treatments and clinical trials.
Area of Science:
- Nephrology
- Genetics
- Cell Biology
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is a prevalent, life-threatening monogenic kidney disorder.
- Recent decades have witnessed substantial advancements in understanding ADPKD.
Purpose of the Study:
- To summarize the progress in ADPKD research, including gene identification and functional characterization.
- To highlight the role of the primary cilium in ADPKD pathogenesis.
- To discuss the implications of genetic heterogeneity and modifier genes on disease variability.
Main Methods:
- Positional cloning to identify mutated genes.
- Functional studies of novel proteins.
- Investigation of the primary cilium's role.
Main Results:
- Identification of causative genes for ADPKD.
- Partial elucidation of the function of associated conserved proteins.
- Increased appreciation of the primary cilium's involvement.
- Better understanding of genetic heterogeneity and modifier genes influencing disease variability.
Conclusions:
- Advances in understanding ADPKD's genetic, molecular, and cellular mechanisms.
- Foundations laid for developing effective therapies.
- Progress supports the initiation of clinical trials for ADPKD.
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