Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder characterized by the formation of multiple cysts in the kidneys, leading to progressive damage and eventual kidney failure. It is inherited in an autosomal dominant pattern, meaning that an individual only needs to inherit the mutated gene from one parent to develop the condition.
ADPKD is one of the most common hereditary kidney disorders, affecting approximately 1 in every 500 to 1,000 individuals worldwide. Symptoms usually appear later in life, typically between the ages of 30 and 50, and can vary in severity among affected individuals.
The cysts that form in the kidneys are fluid-filled sacs that gradually increase in size and number, disrupting the structure and function of the organs. As the cysts enlarge, they can lead to complications such as high blood pressure, pain in the abdomen or back, urinary tract infections, kidney stones, and recurrent kidney infections.
Over time, the progressive growth of cysts can cause kidney function to decline, leading to chronic kidney disease and ultimately kidney failure in about 50% of individuals with ADPKD. Treatment options aim to manage symptoms and slow the progression of kidney damage through medication to control blood pressure, pain management, and lifestyle modifications. In some cases, kidney transplantation may be necessary. Genetic testing and counseling are also important for individuals with a family history of ADPKD, as early detection and intervention can help delay the onset of complications.
