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Polycystic Kidney Disease: The Most Common Inherited Kidney Disease

Polycystic kidney disease (PKD) is the most common genetic kidney disease, affecting approximately one in 500 individuals. Symptoms may include flank (low back and side) pain; early satiety (fullness); blood in the urine (hematuria); development of kidney stones; and rupture, bleeding, or infection of kidney cysts.

The disease can take many years to develop, and people without a strong family history may not know that they have the disease until symptoms appear. Most patients with PKD begin to experience some symptoms in their 30s and 40s. In PKD, kidney cysts grow and expand, placing pressure on normal, functional kidney tissue. Eventually, the burden of cysts becomes so severe that kidney function becomes limited. Subspecialized care and genetic counseling are very important for patients with PKD.

Imaging, such as ultrasound, computed tomography (CT), or magnetic resonance imaging (MRI), and genetic testing can confirm PKD. There are two major genes associated with polycystic kidney disease – PKD1 and PKD2. In people with the PKD1 gene mutation, which accounts for roughly 85 percent of PKD cases, severe limitations in kidney function occur at about 55 years of age. Those with PKD2 mutations lose most of their kidney function around 70 years of age.

“Typically, the only treatment for total loss of kidney function is dialysis or kidney transplantation,” says Dr. Peter Czarnecki. “That is why we are focused on understanding the underlying biology of PKD and offering clinical trials designed to halt or slow the progression of cyst development and growth in this disease.”


In this video, Peter Czarnecki, MD, a nephrologist in the Division of Renal Medicine at Brigham and Women’s Hospital, discusses polycystic kidney disease management and research.