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Key Features

  • Common hereditary disease, affecting 500,000 individuals or 1 in 800 live births in United States

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

  • Seen in 10% of dialysis patients

  • Family history is present in 75%

  • Variable penetrance

  • At least two genes identified as causal of disorder

    • ADPKD1 on the short arm of chromosome 16 (85–90% of patients)

    • ADPKD2 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

Diagnosis

  • 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

Treatment

  • Cyst rupture

    • Bed rest

    • Analgesics, but not nonsteroidal anti-inflammatory drugs (NSAIDs)

  • Cyst pain: decompression

  • Cyst infection:

    • Antibiotics: fluoroquinolones or trimethoprim-sulfamethoxazole intravenously for 2 weeks followed by long-term oral therapy

  • Hydration (2–3 L/day)

  • Hypertension

    • Should be treated with goal of prolonging the time to end-stage renal disease

    • However, a randomized controlled trial showed that aggressive blood pressure control (95–110/60–75 mm Hg), when compared to usual care (120–130/70–80 mm Hg), slowed the increase of kidney volume but not the decline in glomerular filtration rate (GFR)

  • Treatment with octreotide and sirolimus have decreased the rate of cyst growth but not decreased the rate of decline in kidney function

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

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