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Autosomal dominant polycystic kidney disease (ADPKD)

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A 35-year-old presents with hypertension and flank pain. Abdominal ultrasound reveals enlarged kidneys bilaterally with numerous cysts. His father had kidney failure at age 50.

AD; PKD1 (85%) or PKD2 (15%)

  • PKD1: more severe, earlier ESRD (average age 54)
  • PKD2: milder, later ESRD (average age 74)
  • Renal: Progressive cyst development, enlarged kidneys, ESRD
  • Hepatic: Liver cysts (common, usually asymptomatic)
  • Vascular: Intracranial aneurysms (5-10%), MVP
  • Other: Hypertension, hematuria, flank pain, nephrolithiasis
  • Ultrasound criteria (age-based cyst number)
  • Genetic testing (especially if family history uncertain)
  • Blood pressure control
  • Tolvaptan (vasopressin receptor antagonist) - slows progression
  • MRA screening for intracranial aneurysms (if family history or symptoms)

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