Autosomal Dominant Polycystic Kidney Disease

Autosomal Dominant (Adult) Polycystic Kidney Disease 

Updated:10/05/2020

© Jun Wang, MD, PhD

General features
  • Multisystemic and progressive disorder
  • Most common inherited kidney disease
  • Other organs involvement (eg, liver, pancreas, spleen)
  • Third most common cause of end-stage renal disease
  • Many patients require renal replacement therapy
Key pathogenesis
  • Abnormal intracellular signaling by stimulation of cilia
  • Abnormal tubule proliferation
Clinical features
    • Pain: Abdomen, flank, or back, most common initial complaint
    • Hematuria: Usually self-limited
    • Hypertension: Very common, rise in diastolic blood pressure, tend to be more severe at early phase, but less problematic as renal insufficiency progresses
    • Palpable, bilateral flank masses
    • Presentations associated with renal failure
    • Cystic masses in other organs, such as liver, pancreas, etc
    • Causes of death
    Most common: cardiac hypertrophy/coronary artery disease
    Neurologic events: ruptured intracranial aneurysm or hypertensive intracerebral hemorrhage
    Infections
    Pathological findings
    • Large kidney
    • Cystic changes in all parts of nephron
    • Cystic changes in other organs
    • Cysts lined by cuboidal or flattened epithelium
    • Scattered atrophic/compressed but still functional glomeruli
    • Interstitial fibrosis and chronic inflammation
    • Liver cysts lined by benign biliary epithelium
    Genetic abnormalities
    • Polycystin 1 (PKD1, chromosome 16p, most common)
    • Polycystin 2 (PKD2, chromosome 4q)
    Diagnosis
    • Sonography
    • CT, MRI
    • Genetic testing
    Additional workup
    • Screening for intracranial aneurysm
    • Glomerular filtration rate
    Risk factors of progression
    • PKD1 genotype
    • Large kidneys
    • Episodes of gross hematuria/frequent kidney infections
    • Hypertension
    • Multiple pregnancies
    • African American
    • Male
    Differential diagnosis


     Treatment
    • Pharmacologic therapy: Control blood pressure, renal failure, urinary tract infection, etc.
    • Surgery: Drainage
    • Transplantation: Kidney, liver



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