Autosomal dominant policystic kidney disease, more than a renal disease

Area of Science:

• Nephrology
• Genetics
• Internal Medicine

Background:

• Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder affecting 1 in 400-1000 live births.
• Characterized by massive kidney cyst enlargement, fibrosis, early hypertension, and progressive renal failure, ADPKD accounts for 5-10% of end-stage renal disease.
• The disease's systemic nature extends beyond the kidneys, manifesting as cysts in the liver, pancreas, and other organs, alongside non-cystic complications like intracranial aneurysms.

Purpose of the Study:

• To provide a comprehensive overview of Autosomal dominant polycystic kidney disease (ADPKD).
• To discuss the current understanding of ADPKD's pathophysiology, clinical manifestations, and complications.
• To review existing and emerging therapeutic strategies for managing ADPKD.

Main Methods:

• Literature review of Autosomal dominant polycystic kidney disease (ADPKD) research.
• Analysis of clinical trial data for ADPKD treatments.
• Synthesis of information on disease progression and management.

Main Results:

• Tolvaptan, a vasopressin receptor antagonist, has shown efficacy in clinical trials for ADPKD.
• mTOR inhibitors have not demonstrated positive effects in ADPKD treatment.
• Angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin II receptor blockers (ARBs) are primary treatments for hypertension in ADPKD.

Conclusions:

• Currently, no specific cure for ADPKD exists.
• Early management of hypertension and lifestyle modifications are crucial for ADPKD patients.
• Ongoing research into novel molecular targets holds promise for future ADPKD therapies.