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Understanding Autosomal Dominant Polycystic Kidney Disease (ADPKD): Symptoms, Causes, Diagnosis, and Treatment

Hugo Benalcazar

Medically reviewed by Hugo Benalcazar, Northwestern University on March 31st, 2024.

Key Takeaways

  • PKD1 gene mutations cause 85% of cases and lead to kidney failure by age 50-60, while PKD2 mutations progress more slowly with kidney failure typically occurring after age 70.
  • Each child of an affected parent has a 50% chance of inheriting the condition, though 10% of cases result from spontaneous new mutations with no family history.
  • Kidney function remains normal until cysts reach a critical mass—typically when kidneys enlarge to 3-4 times normal size, which explains why symptoms don't appear until the 30s or 40s.
  • Tolvaptan can slow kidney function decline by approximately 35% in rapidly progressing cases, but requires monthly liver monitoring due to potential hepatotoxicity.
  • Maintaining blood pressure below 130/80 mmHg using ACE inhibitors is crucial, as hypertension affects 60% of patients before kidney function declines and accelerates cyst growth.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a condition that causes numerous fluid-filled sacs, called cysts, to grow in your kidneys. These cysts can interfere with your kidneys' ability to function properly, leading to various health issues such as high blood pressure, infections, and kidney stones. In some cases, ADPKD can even lead to kidney failure.

Symptoms of ADPKD

Many people with ADPKD may not experience symptoms for years, often until they reach their 30s or 40s. The most common symptom is high blood pressure. Other signs and symptoms may include:

  • Pain in the back or sides

  • Blood in the urine

  • Swelling in the abdomen

  • Fatigue

  • Frequent urination

  • Irregular periods

  • Nausea

  • Shortness of breath

  • Swollen ankles, hands, and feet

  • Erectile dysfunction

Causes of ADPKD

ADPKD is caused by a genetic defect in one of two genes: PKD1 or PKD2. These genes are responsible for producing proteins that regulate the growth of kidney cells. When one of these genes is faulty, kidney cells grow out of control, forming cysts. ADPKD is an autosomal dominant disorder, meaning that inheriting just one faulty gene from a parent is enough to cause the disease.

Diagnosing ADPKD

If your doctor suspects you have ADPKD, they may refer you to a nephrologist, a specialist in kidney diseases. The diagnostic process typically involves:

  1. A thorough medical history and physical examination

  2. Imaging tests such as ultrasound, MRI, or CT scan to visualize the kidneys and detect cysts

  3. Genetic testing to identify defects in the PKD1 or PKD2 genes

Understanding Autosomal Dominant Polycystic Kidney Disease (ADPKD): Symptoms, Causes, Diagnosis, and Treatment

Treatment and Management of ADPKD

While there is no cure for ADPKD, various treatments can help manage symptoms, slow the progression of kidney damage, and prevent complications. Treatment options may include:

  • Medications to lower blood pressure and slow kidney function decline

  • Antibiotics to treat urinary tract infections

  • Pain management

  • Dialysis or kidney transplant in cases of kidney failure

In addition to medical treatment, adopting a healthy lifestyle can help protect your kidneys and overall health. This includes maintaining a balanced diet low in salt and calories, staying physically active, avoiding smoking, and staying well-hydrated.

Outlook and Complications

The progression of ADPKD can vary from person to person, with some individuals experiencing more rapid kidney function decline than others. Factors such as the specific gene affected (PKD1 or PKD2) and lifestyle choices can influence the disease's course. Potential complications of ADPKD include brain aneurysms, cysts on the liver and pancreas, hernias, heart valve diseases, and colon problems.

Getting Support

Living with ADPKD can be challenging, but you don't have to face it alone. Reach out to your healthcare team, family, and friends for support. Organizations like the PKD Foundation offer valuable resources, support groups, and educational materials to help you navigate your journey with ADPKD.

For more information on ADPKD, consult with your doctor or visit reputable websites such as the National Institute of Diabetes and Digestive and Kidney Diseases and the Mayo Clinic.

The Bottom Line

Early detection through family screening and aggressive blood pressure control can significantly slow progression to kidney failure, potentially delaying dialysis by 5-10 years. The key is starting treatment before symptoms appear, since kidney damage is often irreversible once cysts cause noticeable problems. If you have a family history or are experiencing unexplained high blood pressure or flank pain, Doctronic can help determine if genetic testing or imaging is appropriate.

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