Polycystic kidney disease, autosomal recessive


What is autosomal recessive polycystic kidney disease?

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder of the kidneys and liver, although other organs are also involved. Infants and children with ARPKD have larger than average kidneys that are full of cysts (fluid-filled sacs). The enlarged, cyst filled kidneys do not work very well, leading to end-stage renal disease and a kidney transplant. Symptoms generally start early in life, and may even be seen prior to birth. Autosomal recessive refers to how the disorder is inherited.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/polycystic-kidney-disease-autosomal-recessive/overview/17926 • DATE UPDATED: 2016-06-11


Sweeney WE, Avner ED. Polycystic Kidney Disease, Autosomal Recessive. 2001 Jul 19 [Updated 2014 Mar 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.http://www.ncbi.nlm.nih.gov/books/NBK1326/

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