Polycystic Kidney Disease

Causes of Polycystic Kidney Disease

In most cases, mutations in the PKD1, PKD2, and PKHD1 genes cause polycystic kidney disease. The type of disease is determined by which combination of these genes is affected.
 
Mutations in the PKD1 and PKD2 genes cause autosomal dominant polycystic kidney disease. The PKD1 gene is located on chromosome 16; the PKD2 gene is located on chromosome 4. The cause of autosomal recessive polycystic kidney disease is a mutation in the PKHD1 gene located on chromosome number 6.
 
(Click Polycystic Kidney Disease Causes for more information.)
 

Symptoms of Polycystic Kidney Disease

Polycystic kidney disease symptoms seen in either autosomal dominant or autosomal recessive types can include:
 
When polycystic kidney disease causes kidneys to fail, a person needs dialysis or kidney transplantation. About one-half of people with autosomal dominant polycystic kidney disease progress to kidney failure, also called end-stage renal disease (ESRD).
 

Polycystic Kidneys

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