Autosomal Dominant Polycystic Kidney Disease: A Path Forward

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.