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Key Features

  • The most common monogenic kidney disease, affecting over 12 million individuals worldwide

  • End-stage kidney disease develops in 50% of patients by age 60

  • Disease has variable penetrance but accounts for 5–10% of all end-stage kidney disease cases globally

  • Family history is present in 75% of cases

  • At least two genes identified as causal of disorder

    • PKD1 on the short arm of chromosome 16 (85–90% of patients)

    • PKD2 on chromosome 4 (10–15% of patients)

Clinical Findings

  • Abdominal or flank pain

  • Microscopic or gross hematuria

  • History of urinary tract infections and nephrolithiasis is common

  • Large kidneys that may be palpable on abdominal examination

  • Nephrolithiasis, primarily calcium oxalate stones, in up to 20%

  • Hypertension in 50%

  • Abdominal mass

  • Arterial aneurysms in the circle of Willis in 10–15%

  • Mitral valve prolapse in up to 25%

  • Aortic aneurysms

  • Aortic valve abnormalities

  • Hepatic cysts in 40–50%

  • Pancreatic and splenic cysts also occur


  • Renal ultrasonogram: diagnostic depending on age and number of cysts

  • Urinalysis: may show hematuria and mild proteinuria

  • CT scan: infected cyst has increased wall thickness

  • Cerebral arteriography screening: not recommended unless patient

    • Has a family history of aneurysms

    • Is employed in a high risk profession (such as airline pilot)

    • Is undergoing elective surgery prone to cause moderate to severe hypertension

  • Kidney size, reported as total kidney volume


  • Pain

    • Bed rest and analgesics

    • Cyst decompression can help with chronic pain

  • Hypertension

    • Treat with ACE inhibitors or ARBs if tolerated

    • Intensive blood pressure control (≤ 110/75 mm Hg) is recommended in adults younger than 50 years of age with eGFR > 60 mL/min/1.73m2

    • For other affected individuals, goal blood pressure is ≤ 130/85 mm Hg.

  • Tolvaptan

    • A vasopressin receptor antagonist

    • Decreases the rate of change in the total kidney volume and the decline in the estimated glomerular filtration rate (eGFR)

    • FDA approved for the treatment of autosomal dominant polycystic kidney disease

  • Hydration (at least 2 L/day)

  • Treatment with octreotide, sirolimus, and tyrosine kinase inhibitors decrease the rate of cyst growth but not the rate of decline in kidney function; not routinely used

  • Caffeine may worsen cyst formation; patients may want to limit total intake

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