Polycystic Kidney Disease (PKD): Patient Guide

Overview

Polycystic kidney disease (PKD) is a group of genetic conditions that cause dozens to hundreds of non-cancerous, fluid-filled cysts to grow on the kidneys. These cysts can enlarge the kidneys and impair their function over time, and may also affect other organs including the liver, pancreas, and brain. The two most common types are autosomal dominant PKD (ADPKD, the most frequent form, which usually develops in adulthood, affecting ~1 in 400-1,000 people) and autosomal recessive PKD (ARPKD, a rare form that often appears in infancy or childhood, affecting ~1 in 20,000-40,000 children). PKD is one of the leading causes of kidney failure in the United States.

Signs & Symptoms

Many people with PKD have no symptoms in the early stages, as small cysts do not affect kidney function. Common symptoms that appear as the disease progresses include:

• Persistent pain in the back, side, or lower abdomen
• High blood pressure (hypertension)
• Blood in the urine (hematuria)
• Frequent urinary tract infections
• Kidney stones
• Abdominal fullness after eating small amounts
• Swelling in the hands, feet, or face

Causes & Risk Factors

PKD is caused by inherited genetic mutations. ADPKD is caused by changes in the PKD1 or PKD2 genes, following an autosomal dominant inheritance pattern (you only need one copy of the mutated gene from a parent to develop the condition). ARPKD is caused by mutations in the PKHD1 gene, following an autosomal recessive pattern (you must inherit two copies of the mutated gene, one from each parent, to develop the disease). The biggest risk factor for PKD is having a biological parent with ADPKD; for ARPKD, risk is limited to children of parents who are both carriers of the PKHD1 mutation. People with PKD also have a higher risk of complications including early kidney failure, liver cysts, and rare cases of brain aneurysms.

Diagnosis

PKD is often first detected during routine imaging for other conditions, or through screening if you have a known family history of the disease. Your doctor may use the following tests to confirm a diagnosis:

Treatment & Management

There is no cure for PKD, but treatments can help manage symptoms, slow kidney damage, and prevent complications. Common approaches include blood pressure medications to control hypertension (the most common PKD complication that accelerates kidney damage), pain management for chronic discomfort, antibiotics for UTIs, procedures to drain large painful cysts, and dialysis or kidney transplant for end-stage kidney disease (ESKD).

Living With PKD

With early diagnosis and consistent management, many people with PKD live full, active lives for decades. Key self-care steps to slow disease progression include:

• Monitor your blood pressure at home daily and share logs with your doctor to keep hypertension under control
• Follow a low-sodium, kidney-friendly diet, and work with a renal dietitian to create a personalized meal plan
• Stay hydrated with 8-10 cups of water per day (or as advised by your doctor) to help slow cyst growth and reduce UTI risk
• Exercise for at least 150 minutes per week with moderate activities like walking, swimming, or cycling to maintain a healthy weight and blood pressure
• Attend all regular nephrologist appointments to monitor kidney function and screen for complications like liver cysts or brain aneurysms if you have a family history of these conditions