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Autosomal dominant polycystic kidney disease

Synonym(s) ADPKD
Prevalence 1-5 / 10 000
Inheritance Autosomal dominant
Age of onset All ages
  • Q61.2
  • C0085413
  • D016891
  • 10036046


Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disease characterized by the presence of cysts on any part of the renal tubules.

Affected children can have macro or microscopic hematuria, arterial hypertension, cyst infection and renal insufficiency.

Most families have a defect in the PKD1 gene on chromosome 16, and a smaller proportion in the PKD2 gene on chromosome 4.

Antenatal ultrasonography can show enlarged hyperechogenic kidneys or macrocysts.

Renal cyst infection represents a difficult problem and requires aggressive antibiotic therapy.

Expert reviewer(s)

  • Pr Patrick NIAUDET

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