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Autosomal dominant polycystic kidney disease — the most common inherited kidney disease. How cysts form, the symptoms, diagnosis (including genetic testing), and the treatments that slow progression.
Evidence reviewed & updated: 2026-08 — reflects the latest published trials and guidelines.
ADPKD is the most common inherited kidney disease — about 1 in 500-1,000 people carry a PKD1 or PKD2 mutation. Fluid-filled cysts grow in the kidneys through adulthood, gradually replacing healthy tissue. It's the 4th leading cause of kidney failure — but with early diagnosis, blood pressure control, and tolvaptan in selected patients, progression can be meaningfully slowed.
ADPKD is caused by mutations in PKD1 (85% of cases) or PKD2 (15%). The genes encode polycystin proteins that keep kidney tubule cells from proliferating abnormally — when they're defective, tubules dilate into cysts. Cysts grow over decades, compressing healthy nephrons and driving hypertension, pain, and eventually kidney failure.
It's autosomal dominant — a 50% inheritance risk per child — but about 10-15% of cases are new mutations with no family history, which is why anyone with multiple kidney cysts and no affected parent should still consider genetic testing.
Early ADPKD is silent. The classic presentation: high blood pressure under age 35, flank or abdominal pain, blood in the urine (from cyst rupture), or recurrent UTIs. Diagnosis is usually by ultrasound (Ravine criteria: 3+ cysts in someone with a family history) or CT/MRI, with genetic testing for ambiguous cases or family planning.
Screening blood pressure yearly in at-risk relatives; imaging usually starts in the 20s-30s. Abdominal MRI can measure total kidney volume (TKV) — the key predictor used for tolvaptan eligibility.
The pillars: (1) blood pressure — HALT-PKD showed intensive BP control (<120 systolic) slowed kidney growth in younger patients; (2) tolvaptan (vasopressin V2 antagonist) — slows TKV growth and eGFR decline in adults with high-risk disease, at the cost of aquaretic side effects (thirst, frequent urination) and liver enzyme monitoring; (3) hydration, low sodium, and avoidance of nephrotoxins.
Pain is managed with NSAIDs ONLY with caution (avoid regular use), and cyst drainage for large painful cysts. Kidney failure is treated like other CKD — dialysis or transplant (transplant is the best option; ADPKD patients do well).
Brain aneurysms occur in ~8-10% of ADPKD patients (higher with family history) — screening MRI in those with a family history or high-risk occupations; headaches should not be ignored. Liver cysts are common and usually harmless; hepatic cysts causing symptoms may need treatment. Pregnancy is usually safe with BP control, and genetic counseling helps family planning.
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