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Updated: Nov 30 2021

Adult Polycystic Kidney

  • Snapshot
    • A 32-year-old man presents with hematuria and abdominal pain. He denies any recent trauma or this ever happening before. Family history is significant for his mother dying from a "brain bleed" at age 42. Vital signs are significant for a blood pressure of 158/105 mmHg. On physical exam, there a late systolic crescendo murmur with a midsystolic click and tenderness upon palpation of the abdominal flanks. An ultrasound of the abdomen shows bilateral anechoic cysts with posterior enhancement.
  • Introduction
    • An inherited disorder that results in the expansion of multiple renal cysts which ultimately leads to end-stage renal disease
  • Etiology
    • Secondary to mutations in PKD1 (on chromosome 16, more common; ~85%) or PKD2 (on chromosome 4)
    • Pathogenesis
      • PKD1 or PKD2 mutations result in abnormal cell signaling that results in cystogenesis
        • expansion of cysts results in progressive loss of nephrons
    • Genetics
      • inheritance pattern
        • autosomal dominant
      • mutations
        • PKD1 (on chromosome 16) or PKD2 (on chromosome 4)
          • PKD1 encodes polycystin-1
          • PKD2 encodes polycystin-2
    • Associated conditions
      • cyst development in other organs such as
        • liver (most common extra-renal cyst type)
        • pancreas
        • seminal vesicle
        • note that kidneys appear normal at birth
      • vascular abnormalities such as
        • intracranial aneurysm
        • coronary artery aneurysm
      • cardiovascular abnormalities
        • mitral valve prolapse
        • left ventricular hypertrophy
      • diverticulosis
  • Epidemiology
    • Incidence
      • the most common inherited cause of kidney disease
    • Demographics
      • ≥ 30 years of age
    • Risk factors
      • family history
  • Presentation
    • Symptoms
      • abdominal or flank pain
      • low back pain
      • hematuria
      • urinary tract infection
    • Physical exam
      • hypertension
  • Imaging
    • Ultrasound
      • indication
        • in patients with findings suggestive of autosomal dominant polycystic kidney disease
        • to test family members of patients
      • findings
        • renal cysts
          • anechoic structures with posterior acoustic enhancement
  • Studies
    • Genetic testing
      • routine use is not recommended
    • Diagnostic criteria
      • diagnosis is made by imaging (e.g., renal ultrasound) along with a consistent clinical presentation (e.g., hypertension in a young adult)
  • Differential
    • Autosomal recessive polycystic kidney disease
      • risk factor for Potter sequence
    • von Hippel-Lindau syndrome
    • Medullary cystic disease
    • Simple renal cyst
  • Treatment
    • Medical
      • ACE-inhibitor or angiotensin receptor blocker (ARB)
        • initial treatment of hypertension in patients with ADPKD
        • other medications are used to manage ADPKD complications
  • Complications
    • Renal complications
      • hematuria
      • nephrolithiasis
      • urinary tract infection
    • Extra-renal complications
      • hypertension (most common)
      • intracranial aneurysm
  • Prognosis
    • With age the number and size of the cyst increases
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