Polycystic kidney disease
Make an Appointment
Talk to DoctorOverview
Polycystic kidney disease (PKD) is a genetic disorder characterized by the development of fluid-filled cysts in the kidneys. Unlike harmless simple kidney cysts, PKD is a serious form of chronic kidney disease that can have significant health complications. The cysts in PKD can grow in size, causing the kidneys to enlarge and disrupt their ability to effectively filter waste from the blood, resulting in a progressive decline in kidney function.
Polycystic kidney disease comes in two types:
- Autosomal dominant polycystic kidney disease (ADPKD): The most common type of PKD is ADPKD. Between the ages of 30 and 50, ADPKD is typically diagnosed in adults, while it can also develop in young children or adolescents. The disease can only be passed to the children if one parent has it. Every child has a 50% chance of developing ADPKD if one parent does. The majority of polycystic kidney disease cases fall within this category.
- Autosomal recessive polycystic kidney disease (ARPKD): Infantile PKD, also known as ARPKD, is an uncommon variation of PKD. In the womb or soon after birth, it leads to abnormal kidney development. The first signs of a condition may not show up until later in childhood or during adolescence.
Consequently, most individuals affected by PKD will eventually require dialysis or a kidney transplant to sustain their kidney function.
Symptoms
Symptoms of polycystic kidney disease include:
- Autosomal dominant polycystic kidney disease (ADPKD):
- High blood pressure
- Blood in your urine
- Headaches
- Back or side pain
- Autosomal recessive polycystic kidney disease (ARPKD):
- Enlarged kidneys.
- Growth failure (low birthweight)
- Low levels of amniotic fluid may indicate that the baby isn’t making enough urine in the uterus.
It is important to be aware that polycystic kidney disease can often go undetected for extended periods. If any signs or symptoms associated with this condition arise, seeking medical attention is recommended. Individuals with a first-degree relative such as a parent, sibling, or child who has polycystic kidney disease should consult a healthcare professional to discuss the possibility of screening for this disorder.
Causes
Polycystic kidney disease is brought on by abnormal genes, which implies that it typically runs in families. Sometimes a gene will change spontaneously, leaving neither parent with a copy of the modified gene. But occasionally, genes will randomly change or mutate. PKD can affect people of various ages, races, and ethnicities. Both men and women can get it.
Diagnosis
Polycystic kidney disease can be diagnosed and evaluated through various tests that assess the size and quantity of kidney cysts, as well as the amount of healthy kidney tissue. These tests include:
- Ultrasound: This non-invasive procedure involves placing a transducer, which emits sound waves, on your body. The reflected sound waves are then converted into images of your kidneys using a computer, similar to sonar technology.
- Computed Tomography (CT) scan: You will lie on a movable table and be guided into a large, doughnut-shaped device. This device projects thin X-ray beams through your body, enabling your doctor to view cross-sectional images of your kidneys.
- Magnetic Resonance Imaging (MRI) scan: You will lie inside a large cylinder while magnetic fields and radio waves generate detailed cross-sectional views of your kidneys.
In addition to imaging tests, genetic testing may be recommended. This involves a blood or saliva test to check for mutated genes responsible for causing polycystic kidney disease.
Treatment
Polycystic kidney disease can vary in severity among individuals, even within the same family. While some people may experience a milder form of the disease and may never develop end-stage kidney disease, others may progress to this stage. Typically, individuals with PKD tend to reach end-stage kidney disease between the ages of 55 to 65. Early treatment of polycystic kidney disease focuses on addressing the signs, symptoms, and complications associated with the condition:
- Kidney cyst growth: Tolvaptan therapy can be recommended to slow down the rate of kidney cyst growth and preserve kidney function. However, it carries a risk of serious liver injury and can interact with other medications. It is important to consult a nephrologist for specialized monitoring and to manage potential side effects.
- Breathing support: Infants with underdeveloped lungs and breathing difficulties may require mechanical ventilation to assist with their breathing.
- High blood pressure: Controlling high blood pressure is crucial in slowing down the progression of PKD and further kidney damage. This can be achieved through a low-sodium, low-fat diet that is moderate in protein and calorie content. It is also important to avoid smoking, increase exercise, reduce stress, and consider medications such as ACE inhibitors or ARBs.
- Declining kidney function: Maintaining a healthy body weight (measured by body mass index) is recommended to support kidney health. Drinking an adequate amount of water and fluids throughout the day can help slow down the growth of kidney cysts and preserve kidney function. Following a low-salt diet and reducing protein intake may also help the kidney cysts respond better to increased fluid intake.
- Pain management: Over-the-counter medications containing acetaminophen can help control the pain associated with PKD. In more severe cases, procedures such as cyst aspiration or surgery may be necessary to alleviate pressure and pain caused by large cysts.
- Bladder or kidney infections: Prompt treatment of infections with antibiotics is essential to prevent kidney damage. Your doctor will determine the appropriate course of treatment based on the type and severity of the infection.
- Blood in the urine: Drinking plenty of fluids, particularly plain water, can help dilute the urine and prevent the formation of obstructive clots. In most cases, the bleeding will stop on its own. However, if it persists, it is important to consult your doctor.
- Kidney failure: If kidney function declines to the point where waste products and excess fluids cannot be adequately removed from the blood, dialysis or a kidney transplant may be necessary. Regular monitoring of PKD will allow for optimal timing of a kidney transplant. In some cases, a preemptive kidney transplant may be possible, eliminating the need for dialysis.
- Aneurysms: Individuals with PKD and a family history of ruptured brain aneurysms may require regular screening for intracranial aneurysms. Treatment options, such as surgical clipping or nonsurgical management, depend on the size of the aneurysm and may involve controlling high blood pressure, managing high blood cholesterol levels, and quitting smoking.
- Growth therapy: Underweight or underdeveloped infants may require nutritional therapy or human growth hormone to support healthy growth. Consulting a healthcare provider is recommended to determine the appropriate treatment plan.
