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Autosomal dominant polycystic kidney disease

Orpha number ORPHA730
Synonym(s) -
Prevalence >1 / 1000
Inheritance
  • Autosomal dominant
Age of onset Variable
ICD-10
  • Q61.2
OMIM
UMLS
  • C0085413
MeSH
  • D016891
MedDRA
  • 10036046
SNOMED CT
  • 28728008

Summary

Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disease characterized by the presence of cysts on any part of the renal tubules. It is the most common form of polycystic kidney disease, the prevalence being estimated at 1/1000. It is thus not a rare disease. 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)

  • Dr Patrick NIAUDET

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Detailed information

Clinical genetics review
  • EN (2012)
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