Polycystic Kidney Disease
Overview
Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. These cysts are filled with fluid and can profoundly enlarge the kidneys while replacing much of the normal structure, leading to reduced kidney function and eventually kidney failure.
Genetics
PKD is a genetic disorder that can be inherited in an autosomal dominant or autosomal recessive manner. The autosomal dominant form, also known as ADPKD, is the most common form of PKD and about 90% of all PKD cases are ADPKD. The disease is caused by mutations in the PKD1 or PKD2 genes.
The autosomal recessive form, also known as ARPKD, is less common and is often recognized in infancy or in utero. It is caused by mutations in the PKHD1 gene.
Symptoms
The symptoms of PKD can include pain in the back or sides, headaches, urinary tract infections, blood in the urine, kidney stones, and high blood pressure. Other symptoms can include liver and pancreatic cysts, abnormal heart valves, and an aneurysm in the brain.
Diagnosis
PKD is typically diagnosed through imaging studies such as ultrasound, computerized tomography (CT) scans, or magnetic resonance imaging (MRI) scans. Genetic testing can also be used to confirm the diagnosis, especially in individuals with a family history of the disease.
Treatment
There is currently no cure for PKD, but treatment can alleviate symptoms and slow the progression of the disease. Treatment options include pain management, treatment of infections, control of blood pressure, and in severe cases, dialysis or kidney transplantation.
Prognosis
The prognosis for individuals with PKD varies and depends on the type of PKD and the individual's overall health. Some individuals live with the disease for many years without developing serious complications, while others may progress to kidney failure and require dialysis or a kidney transplant.