Disease Directory Autosomal Dominant Polycystic Kidney Disease
Renal

Autosomal Dominant Polycystic Kidney Disease

Also known as: ADPKD, PKD1/PKD2 disease, adult polycystic kidney

Prevalence

Approximately 1 in 400–1,000; one of the most common monogenic disorders

Onset

Adult (symptoms typically in 3rd–4th decade; cysts present from birth)

Type

Rare inherited cystic kidney disease

Gene

PKD1, PKD2

About Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease is the most common inherited kidney disorder, caused by mutations in PKD1 or PKD2 encoding polycystin-1 and polycystin-2 respectively, leading to progressive bilateral renal cyst development and enlargement. It is the fourth leading cause of end-stage renal disease globally, with extrarenal manifestations including intracranial aneurysms, hepatic cysts, and mitral valve prolapse. PKD1 mutations cause a more severe phenotype than PKD2, with earlier onset of renal failure.

Common Clinical Features

Bilateral enlarged kidneys with multiple cysts Hypertension (often the earliest manifestation) Flank or abdominal pain Haematuria Urinary tract infections and cyst infections Progressive decline in eGFR Intracranial aneurysms and hepatic cysts (extrarenal)

Clinical Trial Eligibility Tips

What to know before applying to Autosomal Dominant Polycystic Kidney Disease trials.

Total kidney volume (TKV) measured by MRI or CT is the primary imaging biomarker and is used for Mayo Clinic Classification (class 1A–1E); document TKV and height-adjusted TKV before applying.

Tolvaptan eligibility criteria typically require rapidly progressive disease (Mayo class 1C–1E or historical TKV growth >5% per year); gather longitudinal imaging if available.

Current eGFR and rate of decline over the preceding 1–3 years are key eligibility metrics; ensure creatinine history is compiled from your GP or nephrologist.

Patient Resources

Patient Organization

PKD Foundation

Visit website ↗

Natural History Registry

ADPKD Registry (CRISP Study / HALT-PKD Data)

Join registry ↗

Orphanet

European reference resource for rare diseases (ORPHA:730)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Autosomal Dominant Polycystic Kidney Disease trials

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