About PKD

Overview

Polycystic kidney disease (PKD) is a genetic disease that causes the kidneys to develop multiple large cysts. These cysts ultimately replace the normal kidney tissue, causing the kidneys to malfunction. Depending on the form of polycystic kidney disease, patients may develop symptoms of kidney failure early in life or during adulthood.

Genetic Inheritance

Normal cells in the human body have two copies of every gene. PKD, according to the Genetics Home Reference, is an autosomal disease, which means that both men and women can be affected. Polycystic kidney disease can be autosomal dominant or autosomal recessive, which not only affects how it is passed on but at what age the disease causes problems.

Autosomal Dominant

Autosomal dominant kidney disease only requires one mutated copy of a gene. The Genetics Home Reference explains that this form of PKD is the most common and is a result of mutations in either the PKD1 or PKD2 genes. Patients with this disease typically have one parent with the condition and it usually manifests when the patient is between the ages of 30 and 40.

Autosomal Recessive

The autosomal recessive form of PKD often involves a mutation in a gene known as PKHD1. Patients with this disease have mutations in both of their copies of PKHD1. This means that a person with two healthy parents can develop this form of disease if both of them have a PKHD1 mutation. This form of PKD can cause cysts to form in the kidney while the patient is still a developing fetus.

Symptoms and Diagnosis

The National Institute of Diabetes and Digestive and Kidney Disorders explains that patients with PKD commonly experience pain in their flank as well as increased urinary frequency and a tendency to get infections in their urinary tract. Because the kidneys are involved in the regulation of blood pressure, these patients may also develop hypertension. This condition is usually diagnosed via an abdominal ultrasound, MRI or CT scan.

Treatment

Because PKD is a genetic disease, treatment aims at limiting the complications of the kidney cysts. Many patients need to take blood pressure medications (such as diuretics or beta-blockers) to keep their blood pressure under control. Patients also frequently need antibiotics to treat the infections in the urinary tract. Because PKD ultimately causes the kidneys to fail, patients need regular monitoring of their kidney function (via blood tests) and generally need dialysis or a kidney transplant at some point.

About this Author

Adam Cloe has been published in various scientific journals. He is an M.D./Ph.D. student at the University of Chicago. He has a Bachelor of Arts in biochemistry from Boston University, where he won an award for excellence in undergraduate science writing.