How Does Polycystic Kidney Disease Affect the Kidneys?

This illustration shows a kidney afflicted by polycystic Kidney Disease (PCKD) compared with a healthy kidney.

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder that causes cysts to form in the kidneys and kidney enlargement. Polycystic kidney disease is a progressive illness and it can affect other organs in the body, such as the liver, pancreas, and spleen. About half of all ADPKD patients will require a dialysis or kidney transplant by the age of 60. ADPKD occurs in about 1 out of 1,000 people.

Patients with polycystic kidney disease are also at higher risk for intracranial aneurysms.

The most common symptom of polycystic kidney disease is pain in the abdomen. Pain may also radiate to the sides (flank), pelvis, back, or chest. 

Other symptoms of polycystic kidney disease may include:

• Ache and discomfort in the abdomen or sides
• Sensation of heaviness or fullness in the abdomen
• Urinary tract infections (UTIs)
• Blood in the urine
• Uncontrolled high blood pressure (hypertension)
• Unexplained protein in the urine 

The cause of autosomal dominant polycystic kidney disease (ADPKD) is a genetic mutation of one of two genes affecting kidney development and function. If one parent has the disease, there is a 50% chance they will pass it on to their children. 

Polycystic kidney disease is typically diagnosed using imaging studies such as:

• Ultrasonography 
• Computed tomography (CT)
• Magnetic resonance imaging (MRI)
• Magnetic resonance angiography (MRA) 

Other diagnostic testing may include:

• Blood tests for kidney function and electrolytes
• Complete blood cell count (CBC)
• Urine tests, including urine protein and urine albumin
• Uric acid level tests 

Genetic testing may be indicated for family members or offspring of symptomatic patients. This is especially important in family members of patients who may be considered as a kidney donor. 

Intracranial aneurysms occur twice as often in patients with ADPKD compared to the general population. For this reason, patients with ADPKD should be screened for signs of intracranial aneurysms if surgery is planned, if there are neurologic symptoms, or if the patient experiences any suspected signs of stroke.

Polycystic kidney disease often can lead to kidney failure, so treatment for ADPKD is aimed at slowing kidney function decline and includes:

• Lifestyle modification
• Reduce sodium intake
• Increase fluid intake
• Avoid contact sports in which direct trauma can cause internal bleeding

Medications 

• Blood pressure medications
• Angiotensin-converting enzyme (ACE) inhibitors
• Angiotensin II receptor blockers (ARBs)
• Treatment of urinary tract infections (UTIs) 
• Ciprofloxacin, trimethoprim-sulfamethoxazole, clindamycin, and chloramphenicol

Pain management

• Avoid nonsteroidal anti-inflammatory drugs (NSAIDs)
• Surgery may be necessary for large cysts
• Tolvaptan (Jynarque) used to slow kidney function decline in adults at risk of rapidly progressing ADPKD

Renal replacement therapy for end-stage renal disease (ESRD)

• Hemodialysis
• Peritoneal dialysis
• Kidney transplantation

Management of intracranial aneurysms 

Surveillance of aneurysms is necessary because treatment in patients with ADPKD is complicated 

If not well-managed, polycystic kidney disease may progress more rapidly, leading to end-stage renal disease (ESRD), which requires renal replacement therapy such as:

• Hemodialysis
• Peritoneal dialysis, or
• Kidney transplantation

Intracranial aneurysms are more common in patients with polycystic kidney disease and can cause complications such as:

• Headaches,
• Transient ischemic attacks (TIAs, or “mini strokes”)
• Hemorrhagic strokes
• Vision problems

Life expectancy depends on the severity and the progression of the disease to end-stage renal disease (ESRD). Patients who develop renal failure early in their lives will have more complications and a shorter life span. Most patients do not begin to develop problems until their 30s, and if the condition is well-managed can live a near-normal lifespan. Patients who receive kidney transplants can also increase their life expectancy. 

Since polycystic kidney disease is a genetic disorder, it cannot be prevented. Once a patient is diagnosed with the disease, symptoms and complications may be slowed if the illness is well managed.