PKD is a genetic condition where kidneys develop multiple cysts, causing enlargement and damage to other organs. Symptoms include high blood pressure, headaches, and kidney failure. There are two types, autosomal dominant and recessive, with different genetic defects. Diagnosis is through imaging and genetic testing, and treatment varies based on symptoms and cysts.
Polycystic kidney, commonly referred to as PKD or PCKD, is a genetic condition in which the kidneys develop multiple cysts. A cyst is an abnormal sac in which gaseous, liquid or semi-solid material is enclosed. The cysts that occur due to PKD are fluid-filled, vary in size, and cause the kidneys to become dramatically enlarged. Although it mainly affects the kidneys, PKD can also create cysts in the liver, colon and pancreas and damage blood vessels, the heart and the brain. There are two types of PKD, autosomal dominant and autosomal recessive.
The kidney is a paired organ located in the back, or toward the back, of the abdomen. These organs are responsible for producing urine, filtering the blood, reabsorbing sugar and salt into the bloodstream, and managing water concentration in the body, among other functions. The kidneys of PKD patients progressively lose their ability to perform these functions, sometimes culminating in kidney failure. Usually, this takes many years to occur.
People who have PKD often don’t notice any symptoms. Symptoms that may develop include high blood pressure, headache, blood in the urine, kidney stones, back or side pain, bloating, frequent urination, urinary tract or kidney infections, and, in the end stages, kidney failure. In cases of kidney failure, patients may require a kidney transplant or dialysis, an artificial replacement for kidney function.
The two types of PKD, autosomal dominant and autosomal recessive, are divided based on the different genetic defects that cause PKD. Autosomal dominant polycystic kidney disease (ADPKD) is by far the more common of the two. This defect is passed on via a dominant gene, so that if one parent has the disease, the child also has a fifty-fifty chance of developing the disease. ADPKD was formerly called adult PKD, because it often presents symptoms between the ages of 30 and 40. Children, however, can also develop autosomal dominant PKD.
The defect that causes autosomal recessive polycystic kidney disease (ARPKD) is passed on by a recessive gene. Since the gene is recessive, if one parent carries the defect and the other does not, the defective gene will be overwritten by the healthy gene. If both parents carry the abnormal recessive gene, however, the child has a XNUMX% chance of developing ARPKD. Unlike ADPKD, which can result from one of two possible defective genes, only one gene is associated with ARPKD. Symptoms of ARPKD usually present in childhood but may not develop until late childhood or early adolescence.
A doctor may discover PKD unintentionally or intentionally look for PKD with imaging technology. Typically, these tests include an ultrasound, computed tomography (CT), or magnetic resonance imaging (MRI). In some cases, particularly when a family member donates a kidney, genetic testing may also be included in the diagnosis stage. Treatment for PKD symptoms and complications will then be determined based on the size, number and location of the cysts and the symptoms the patient is experiencing. Treatment may include medications to control blood pressure, surgery to drain the cysts, antibiotic treatment of infections, pain medications, and ongoing monitoring of affected areas.
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