Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

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
Last update: February 2007

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information
Clinical genetics review
  • EN (2012)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.