Related Experiment Video
Updated: Mar 28, 2026
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
Autosomal Dominant Polycystic Kidney Disease: A Path Forward
Gopala K Rangan1, Pamela Lopez-Vargas2, Brian J Nankivell1
1Department of Renal Medicine, Westmead Hospital, Western Sydney Local Health District, Westmead, Sydney, Australia; Centre for Transplant and Renal Research, Westmead Institute for Medical Research, University of Sydney, Westmead, Sydney, Australia.
Insights
Autosomal dominant polycystic kidney disease (ADPKD) stems from PKD1/PKD2 gene mutations, causing kidney cysts and failure. Advances in understanding ADPKD pathogenesis and therapeutics offer hope for reduced kidney failure risk.
Area of Science:
- Nephrology
- Genetics
- Molecular Biology
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of adult renal failure.
- It results from loss-of-function mutations in PKD1 or PKD2 genes, encoding polycystin-1 and polycystin-2.
- Polycystin dysfunction disrupts kidney structure, leading to cyst formation and progressive kidney failure.
Purpose of the Study:
- To provide a contemporary summary of ADPKD pathogenesis and therapeutic strategies.
- To highlight the importance of clinical practice guidelines, patient perspectives, and health-economics in ADPKD management.
Main Methods:
- Review of major advances in ADPKD genetics and pathogenesis over the past two decades.
- Analysis of evidence from randomized controlled trials and observational studies.
- Inclusion of perspectives on clinical practice guidelines, patient-reported outcomes, and health-economics.
Main Results:
- Significant progress in understanding ADPKD pathogenesis and developing evidence-based treatments.
- Accumulated data from clinical trials offer hope for reducing the lifetime risk of kidney failure.
- Growing emphasis on patient-centered care, including patient perspectives and reported outcomes.
Conclusions:
- Advances in genetics and pathogenesis have improved ADPKD management and therapeutic outlook.
- Continued research and integrated approaches, including patient perspectives and health-economics, are crucial for curtailing kidney failure.
- This review synthesizes current knowledge to guide future research and clinical practice in ADPKD.
Abstract:
Autosomal dominant polycystic kidney disease (ADPKD) is the commonest inherited cause of renal failure in adults, and is due to loss-of-function mutations in either the PKD1 or PKD2 genes, which encode polycystin-1 and polycystin-2, respectively. These proteins have an essential role in maintaining the geometric structure of the distal collecting duct in the kidney in adult life, and their dysfunction predisposes to renal cyst formation. The typical renal phenotype of ADPKD is the insidious development of hundreds of renal cysts, which form in childhood and grow progressively through life, causing end-stage kidney failure in the fifth decade in about half affected by the mutation. Over the past 2 decades, major advances in genetics and disease pathogenesis have led to well-conducted randomized controlled trials, and observational studies that have resulted in an accumulation of evidence-based data, and raise hope that the lifetime risk of kidney failure due to ADPKD will be progressively curtailed during this century. This review will provide a contemporary summary of the current state of the field in disease pathogenesis and therapeutics, and also briefly highlights the importance of clinical practice guidelines, patient perspectives, patient-reported outcomes, uniform trial reporting, and health-economics in ADPKD.
More Related Videos
Related Concept Videos
01:25Chronic Kidney Disease I: Introduction
01:28Chronic Kidney Disease III: Interprofessional Care
01:29Pharmacogenomics: Identification of New Drug Targets
01:10Nephrons