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

Simple search

*
(*) mandatory field





 

Other search option(s)

Autosomal recessive polycystic kidney disease

Orpha number ORPHA731
Synonym(s) -
Prevalence 1-9 / 100 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10
  • Q61.1
OMIM
UMLS
  • C0085548
MeSH
  • D017044
MedDRA
  • 10036047
SNOMED CT
  • 28770003

Summary

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement. ARPKD is a rare disease that affects 1/40 000 children. Its prevalence in the general population is 1/85 000. After birth, in addition to nephromegaly, arterial hypertension and urinary tract infections are common and often severe. Liver involvement can be asymptomatic or may consist of portal hypertension or biliary duct infection such as cholangitis. Liver function remains normal. The disease follows a recessive pattern of transmission and the causative gene PKHD1, is located on the short arm of chromosome 6. It contains more than 80 exons and codes for a protein called fibrocystin or polyductin. Ultrasonography shows hyperechogenic and enlarged kidneys, with small cysts in some cases. Intravenous urography visualization of contrast medium in the collecting tubules is prolonged. On renal biopsy, cystic dilations of the collecting tubules following a radiate pattern are observed. Liver ultrasonography shows biliary duct ectasia, a heterogeneous liver and possibly signs of portal hypertension. Biopsy shows biliary dysgenesis with multiple and dilated biliary ducts and periportal fibrosis. Prenatal ultrasonography shows hyperechogenic, enlarged kidneys and, in the more severe forms, oligohydramnios. Renal failure is the major complication, but end-stage disease rarely occurs before the age of 15 years. Treatment for end-stage renal failure consists of dialysis and renal transplantation.

Expert reviewer(s)

  • Dr Patrick NIAUDET

(*) 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 (2014)
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.