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A Possible Zebrafish Model of Polycystic Kidney Disease: Knockdown of wnt5a Causes Cysts in Zebrafish Kidneys
Published on: December 2, 2014
Autosomal dominant polycystic kidney disease
Emilie Cornec-Le Gall1, Ahsan Alam2, Ronald D Perrone3
1Service de Néphrologie, Hémodialyse et Transplantation Rénale, Centre Hospitalier Universitaire, Brest, France; UMR1078 Génétique, Génomique Fonctionnelle et Biotechnologies, INSERM, Université de Brest, Brest, France; Université de Bretagne Occidentale, Brest, France.
Insights
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder causing enlarged kidneys and kidney failure. Advances in genetics, imaging, and therapeutics now offer better diagnosis, prognosis, and disease-modifying treatments for ADPKD patients.
Area of Science:
- Nephrology
- Genetics
- Internal Medicine
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent hereditary kidney disease and a leading cause of end-stage kidney disease.
- ADPKD is a systemic disorder with diverse clinical manifestations, including enlarged kidneys, hypertension, liver cysts, intracranial aneurysms, and cardiac valvular disease.
Purpose of the Study:
- To review recent advancements in understanding and managing ADPKD.
- To highlight the impact of molecular genetics, advanced imaging, and novel therapeutics on patient care.
Main Methods:
- Review of clinical research, including Phase 3 randomized, placebo-controlled trials.
- Integration of data from molecular genetics and advanced imaging techniques.
Main Results:
- Enhanced diagnostic and prognostic tools are available for ADPKD patients and families.
- A disease-modifying drug is now approved for high-risk ADPKD patients, improving management strategies.
Conclusions:
- Recent developments provide a strong foundation for evidence-based recommendations in ADPKD management.
- Implementing these advances can potentially delay kidney failure, reduce symptoms, and improve cardiovascular outcomes, prolonging life.
Abstract:
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and one of the most common causes of end-stage kidney disease. Multiple clinical manifestations, such as enlarged kidneys filled with growing cysts, hypertension, and multiple extrarenal complications, including liver cysts, intracranial aneurysms, and cardiac valvular disease, show that ADPKD is a systemic disorder. New information derived from clinical research using molecular genetics and advanced imaging techniques has provided enhanced tools for assessing the diagnosis and prognosis for individual patients and their families. Phase 3 randomised, placebo-controlled clinical trials have clarified aspects of disease management and a disease-modifying therapeutic drug is now available for patients with high risk of rapid disease progression. These developments provide a strong basis on which to make clear recommendations about the management of affected patients and families. Implementation of these advances has the potential to delay kidney failure, reduce the symptom burden, lessen the risk of cardiovascular complications, and prolong life.
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