Polycystic+Kidney+Disease

Polycystic kidney disease (PKD) is caused by a mutation in one of two cells: PKD1 or PKD2. Proteins made by these cells act as a signaling system that tells kidney cells how to develop correctly. When they are mutated, kidney cells do not develop into the right structures: instead, they form abnormal cysts that interfere with kidney function and cause swelling. Normally, your kidneys filter out harmful substances in your blood and flush them out of your body in your urine. When cysts develop, your kidneys can't do their job correctly, causing harmful effects on your body. Other parts of your body also develop these cysts, including the liver and the pancreas. Those with the disease have high blood pressure and often heart disease, which can be treated in the earlier stages.

There are two kinds of polycystic kidney disease: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). In ADPKD, the mutated gene is dominant, meaning that if one of your parents has the mutated gene, you have a 50% chance of inheriting the disease. In ARPKD, the mutated gene is recessive, so you will only get the disease if both of your parents have the gene. ADPKD appears when a patient has reached the age of twenty or thirty, but ARKPD kills infants while still in the womb or soon after birth. This, however, is relatively rare compared to ADPKD, which affects at most 1 out of 500 individuals in the US. ARPKD affects 1 in 10,000.

Testing for PKD generally happens in one of two ways. A doctor can see that a patient has PKD by seeing or feeling cysts in the kidneys, and can use an ultrasound to make sure. Genetic tests are also used to see if you are at risk for the disease.

There are no effective cures known for PKD. However, if the disease progresses to kidney failure, a kidney transplant or dialysis are options which can help the patient live a normal, symptom-free life.