About Polycystic Kidney Disease
Polycystic Kidney Disease results from mutations in the PKD1 gene (chromosome 16, accounting for 85% of cases) or PKD2 gene (chromosome 4, accounting for 15% of cases). These genes encode proteins involved in cellular structure and communication. The mutations lead to uncontrolled cyst formation and expansion within the kidney, progressively destroying normal kidney tissue. PKD1 mutations typically cause more aggressive disease with kidney failure by age 50-60, while PKD2 mutations generally lead to later onset disease.
As cysts enlarge, they damage remaining functional kidney tissue through inflammation, ischemia, and fibrosis. Most patients develop hypertension even before significant loss of kidney function, which can accelerate disease progression. Patients may have numerous complications including chronic pain from cyst hemorrhage, urinary tract infections, kidney stones, and hepatic cysts that rarely cause symptoms. About 50% of PKD1 patients develop end-stage renal disease by age 60. Extrarenal manifestations include aortic root dilation, mitral valve prolapse, intracranial aneurysms, and arachnoid cysts.
Common Symptoms of Polycystic Kidney Disease
Recognizing the signs of Polycystic Kidney Disease early can lead to faster diagnosis and better outcomes. Symptoms may vary in severity from person to person. If you or a loved one are experiencing any of the following, consider speaking with a specialist.
- Flank or back pain from enlarged kidneys
- Hematuria visible or microscopic blood in urine
- High blood pressure
- Urinary tract infections
- Kidney stones
- Fatigue from anemia and declining kidney function
Who Polycystic Kidney Disease Affects
Autosomal dominant PKD typically appears in late 30s to 50s, though symptoms can begin earlier. Affects males and females equally. The condition is inherited from a parent carrying the mutation. About 10% of cases result from de novo mutations. More common in people of European ancestry but occurs across all populations.
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FDA-Approved Treatments for Polycystic Kidney Disease
There is currently 1 FDA-approved medication for Polycystic Kidney Disease. These therapies represent the current standard of care and may be used alongside or compared against investigational treatments in active clinical trials.
Source: openFDA drug labeling data. This list may not include all treatments. Always consult your doctor.
Side Effect Explorer
Real-world side effect reports from the FDA Adverse Event Reporting System (FAERS). Includes both FDA-approved drugs and investigational therapies from active clinical trials. Click any drug to see what patients reported.
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Genetic Testing
Genetic testing can confirm a diagnosis, guide treatment decisions, and identify family members who may be at risk.
The PKD1 gene page lists every condition Orphanet links to the gene and the open trials that name it.
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Trusted Polycystic Kidney Disease Resources
Reputable organizations and medical references for learning more about Polycystic Kidney Disease, including disease registries, foundation resources, and clinical guidelines.