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Polycystic kidney disease or PKD is a cystic genetic disorder of the kidneys. It occurs in humans and some other animals. PKD is characterized by the presence of multiple cysts (hence, “polycystic”) typically in both kidneys; and sometimes in other parts of the body. As the cysts accumulate fluid, they enlarge, separating entirely from the nephron or the layer that eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. This compresses the neighboring renal tissue, and progressively compromise the renal function. The disease can also damage the liver, pancreas and, in some cases, the heart and brain.
Polycystic kidney disease is one of the most common life-threatening genetic diseases, affecting an estimated 12.5 million people worldwide. The two major forms of polycystic kidney disease are distinguished by their patterns of inheritance. Autosomal dominant PKD is the most common inherited form while Autosomal recessive PKD is a rare. PKD has no cure; it is treated by reducing symptoms.
Common symptoms of autosomal dominant PKD are pain in the back and the sides-between the ribs and hips-and headaches. The pain can be temporary or persistent and variable in intensity (mild to severe); symptoms usually develop in adults. Other symptoms include high blood pressure, UTI’s, urinary frequency, bulging belly, low blood counts, and varicose veins.
When PKD causes kidneys to fail, which usually happens after many years, the patient requires dialysis or kidney transplantation. About one-half of people with the most common type of PKD progress to kidney failure, also called end-stage renal disease (ESRD).