Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder characterized by the formation of multiple cysts in the kidneys, typically leading to kidney failure. It is considered autosomal dominant since only one copy of the mutated gene is necessary for the disease to manifest, meaning an affected individual has a 50% chance of passing the disease to their offspring.
The cysts in the kidneys gradually enlarge over time, leading to a loss of kidney function and potential complications such as high blood pressure, urinary tract infections, kidney stones, and an increased risk of aneurysms. Symptoms may not appear until adulthood, usually between the ages of 30 and 40, although presentation can vary widely.
ADPKD is caused by mutations in the PKD1 or PKD2 genes, responsible for producing proteins involved in kidney development and function. These mutations disrupt the normal growth and development of kidney tubules, leading to the formation of cysts. The severity and progression of the disease can vary among individuals, even within the same family.
Diagnosis of ADPKD usually involves imaging studies such as ultrasound, computed tomography (CT) scans, or magnetic resonance imaging (MRI) to visualize the cysts in the kidneys. Genetic testing can confirm the diagnosis and help identify family members at risk, facilitating early monitoring and intervention.
Treatment for ADPKD primarily focuses on managing symptoms, controlling blood pressure, and preventing complications. In severe cases, where kidney function is significantly impaired, dialysis or kidney transplantation may be necessary. Research is ongoing to develop targeted therapies aimed at slowing down cyst growth and preserving kidney function in ADPKD.
