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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
  • Clinical definition
    • an inherited disorder that results in expansion of multiple renal cysts which ultimately leads to end-stage renal disease
  • Epidemiology
    • incidence
      • the most common inherited cause of kidney disease
    • demographics
      • ≥ 30 years of age
    • risk factors
      • family history
  • Etiology
    • secondary to mutations in PKD1 (on chromosome 16, more common; ~85%) or PKD2 (on chromosome 4) 
  • Pathogenesis
    • PKD1 or PKD2 mutations results 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
  • Prognosis
    • with age the number and size of the cyst increases
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
    • 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
  • 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
 

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