A genetic disorder characterized by the growth of multiple fluid-filled cysts in the kidneys. The cysts can slowly replace much of the kidney tissue, reducing kidney function and ultimately leading to kidney failure. Kidney failure, sometimes called end-stage renal disease or ESRD, must be treated with dialysis or transplantation. Polycystic kidney disease (PKD) occurs in both children and adults. Infantile PKD, a severe childhood disorder, is an autosomal recessive disorder (neither parent has the disease, but both are carriers). Onset of adult PKD, an autosomal dominant disorder, usually does not occur until affected individuals are in their teens or 20s. About 500,000 adults in the United States have adult PKD, which is usually inherited from a parent who has the disease.
A genetic condition causes both kidneys to form numerous cysts that grow over time, eventually replacing most of the normal kidney tissue. This condition, known as polycystic kidney disease, is different from multiple simple kidney cysts, which are more common as people get older.
There are two forms of polycystic disease. The more prevalent one typically emerges in middle age, leading to symptoms like abdominal enlargement, discomfort, and blood in the urine. As this condition advances, it can cause hypertension (elevated blood pressure) and potential kidney failure.
A less common form of polycystic disease leads to kidney enlargement and kidney failure in infants and young children.
There is no known method to maintain kidney function for either form of the disease. However, symptoms of kidney failure can be addressed through dialysis, which artificially cleans the blood, or a kidney transplant.
Individuals with a family history of this disease might consider genetic counseling before having children. The adult variant is an autosomal dominant disorder, meaning an affected parent has a 50% likelihood of transmitting the faulty gene. If both parents possess the gene for the juvenile version (an autosomal recessive disorder), ultrasound scanning can be used on the fetus to check for kidney enlargement.