The kidneys have two main functions in the body: they filter the blood and remove waste products and excess electrolytes and they also help regulate blood pressure. Genetic diseases such as polycystic kidney disease can gradually damage the kidneys and ultimately result in kidney failure.
Identification
Polycystic kidney disease is a genetic disorder that is marked by the formation of multiple cysts (fluid-filled sacs) on the kidney. As the National Institute of Diabetes and Digestive and Kidney Disorders (NIDDK) explains, this disease gradually causes the kidneys to function improperly (because the normal kidney tissue is replaced by the cysts), ultimately resulting in end-stage renal disease.
Types
There are two distinct types of polycystic kidney disease that are classified based on their inheritance patterns. Every person has two copies of every gene, since each parent contributes a set of genes to their child. Autosomal dominant polycystic kidney disease can be caused by only one mutated copy of a gene, and it typically starts causing symptoms in patients between the ages of 30 and 40. The NIDDK explains that 90 percent of all cases of polycystic kidney disease are of this variety. For autosomal recessive disease to occur, both copies of a gene must be mutated. This kind of polycystic kidney disease can manifest itself while the fetus is developing.
Genetics
The Genetics Home Reference explains that there are three distinct genes that are associated with polycystic kidney disease: PKD1, PKD2 and PKHD1. Mutations in the first two genes can lead to autosomal dominant polycystic kidney disease. These two genes are important for kidney development and function. Mutations in PKHD1 can lead to autosomal recessive polycystic kidney disease. It is not known what function this gene normally has in the human body.
Symptoms and Diagnosis
According to Medline, polycystic kidney disease can cause pain and tenderness in the abdomen as well as flank pain. Patients may also have problems with needing to urinate frequently during the night or may have blood in their urine. One of the main complications of polycystic kidney disease is high blood pressure, though patients can also experience drowsiness and joint pain due to kidney dysfunction. Polycystic kidney disease can be diagnosed by imaging of the abdomen, which can be done via ultrasound, MRI, or a CT scan.
Treatment
Treatment for polycystic kidney disease usually is focused on treating complications, such as the elevated blood pressure. Patients often need to take medications for high blood pressure. Patients also are prone to developing urinary tract infections and may need antibiotics. Dialysis or a kidney transplant may be necessary for patients with severely compromised kidney function.
