Polycystic Kidney Disease – Symptoms and Causes
What is Polycystic Kidney Disease?
Polycystic Kidney Disease (PKD) is a genetic condition where fluid-filled sacs called cysts develop primarily in the kidneys. These cysts can vary in size, with some growing quite large over time.
As they multiply and expand, they can enlarge the kidneys and gradually impair kidney function.
PKD is typically inherited from parents, passing through family lines. While the kidneys are the main affected organs, cysts may also form in other body parts such as the liver and pancreas.
The disease can lead to several health problems, with high blood pressure and kidney failure being the most concerning. The severity of PKD differs greatly from person to person.
Many complications can be prevented or managed through proper treatment approaches and lifestyle modifications that help protect kidney function.
Signs and Problems
Polycystic kidney disease may cause several health issues. These can include:
- High blood pressure
- Pain in the stomach, sides, or back
- Blood when urinating
- Feeling full in the stomach area
- Larger stomach due to bigger kidneys
- Headaches
- Kidney stones
- Kidney failure
- Infections in the urinary tract or kidneys
When to Visit a Healthcare Provider
Many people have this condition for years without knowing it. If you notice any of the symptoms listed above, it’s important to see your doctor.
Also, if someone in your family (parent, brother, sister, or child) has polycystic kidney disease, talk with your healthcare provider about getting tested for the condition.
What Causes Polycystic Kidney Disease
Polycystic kidney disease (PKD) stems from genetic changes that affect kidney development. These gene mutations typically run in families, though they can sometimes occur spontaneously in children without either parent carrying the altered gene.
There are two primary types of PKD, each caused by different genetic mutations:
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
- Most common inherited form of chronic kidney disease
- Symptoms typically appear between ages 30-40
- Only one parent needs the gene mutation to pass it on
- Each child of an affected parent has a 50% chance of inheriting the condition
- Represents the more frequently occurring type of PKD
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
- Much less common than ADPKD
- Symptoms often appear shortly after birth
- Can sometimes develop later in childhood or adolescence
- Both parents must carry the gene mutation
- When both parents are carriers, each child has a 25% chance of developing the condition
The genetic nature of polycystic kidney disease means that family history plays an important role in determining risk factors.
Risk Factors
The main risk factor for polycystic kidney disease is genetic inheritance. When one or both parents carry the gene mutations responsible for this condition, they can pass them to their children.
This hereditary pattern makes family history the strongest predictor of developing the disease.
Health Problems Related to Polycystic Kidney Disease
Polycystic kidney disease can lead to several health problems beyond just kidney cysts. These complications can affect various parts of the body and may require careful management.
Blood Pressure Issues
High blood pressure occurs frequently in people with this disease. If left untreated, it can damage kidneys further and raise the risk of heart disease and stroke.
Kidney Function Decline
One of the most serious problems is the gradual loss of kidney function. About half of those with polycystic kidney disease experience kidney failure by age 60, though some may face this issue as early as their 30s.
Pain Management Challenges
Pain commonly occurs in the side or back and may be:
- Intermittent or constant
- Caused by bleeding into cysts
- Related to kidney stones
- Connected to urinary infections
- Rarely, linked to cancer
Liver Cysts
As people with this condition age, liver cysts become more common. While these cysts usually don’t affect liver function, they tend to be larger in women than men. Hormones and pregnancy may play a role in this difference.
Brain Blood Vessel Risks
People with polycystic kidney disease have higher chances of developing brain aneurysms (bulging blood vessels that can burst and bleed). Those with family histories of aneurysms face the highest risk. Regular screening may be recommended.
Pregnancy Risks
Most women with this condition can have successful pregnancies. However, some develop preeclampsia, a serious pregnancy complication. This risk is higher for those who already have high blood pressure or reduced kidney function before becoming pregnant.
Heart Valve Problems
Up to 25% of adults with polycystic kidney disease develop mitral valve prolapse. This condition prevents the heart valve from closing properly, allowing blood to flow backward.
Digestive System Issues
The disease is associated with diverticulosis—the formation of small pouches or sacs in the colon wall. While these pouches often cause no symptoms, they may sometimes bleed or become infected.
Prevention
Preventing complications from polycystic kidney disease requires a focus on kidney health, particularly blood pressure management. People considering having children should consult with a genetic counselor to understand inheritance risks.
To maintain healthy blood pressure levels:
- Take all prescribed blood pressure medications as directed
- Choose a low-salt diet rich in fruits, vegetables, and whole grains
- Maintain a healthy weight through proper nutrition
- Exercise for at least 30 minutes most days of the week
- Limit alcohol consumption
- Avoid smoking
These lifestyle changes can help protect kidney function over time. Regular monitoring and following healthcare provider recommendations are essential parts of a prevention strategy.
