Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder characterized by the progressive development and enlargement of fluid-filled cysts within the kidneys. These cysts can gradually replace healthy kidney tissue, impairing kidney function over time. Although a cure for ADPKD does not currently exist, various treatments are available to manage its symptoms, slow disease progression, and preserve kidney function. The primary goal of treatment is to mitigate the impact of the condition on a person’s health and delay the onset of kidney failure.
Managing Symptoms and Common Complications
Pain is a frequent symptom in ADPKD, stemming from cyst enlargement, rupture, infection, or kidney stones. For acute pain, treating the underlying cause, such as antibiotics for infection or interventions for kidney stones, is key. Over-the-counter pain relievers like paracetamol are often first choice, with stronger prescription medications like tramadol or oxycodone for more severe cases. Non-steroidal anti-inflammatory drugs (NSAIDs) like ibuprofen are discouraged for long-term use due to kidney function disruption.
High blood pressure is common in ADPKD, affecting 50-70% of patients even before kidney failure. This elevated pressure can accelerate kidney damage, so controlling it is a priority. Angiotensin-converting enzyme (ACE) inhibitors and angiotensin II receptor blockers (ARBs) are often prescribed as first-line treatments to manage blood pressure and may help slow kidney disease progression. The target blood pressure for many ADPKD patients is below 130/80 mmHg, though some younger patients may aim lower.
Urinary tract infections (UTIs) and cyst infections are common in individuals with ADPKD, especially women. Prompt antibiotic treatment is necessary. For cyst infections, longer courses of antibiotics, typically 4-6 weeks, often using fluoroquinolones or trimethoprim-sulfamethoxazole, may be required. Kidney stones are also common; management often involves increased fluid intake to help pass smaller stones, or procedures like extracorporeal shock wave lithotripsy (ESWL) for larger stones. For cyst rupture or bleeding, rest, increased fluid intake, and pain relief are usually sufficient, though hospitalization may be needed for significant bleeding.
Medications to Slow Disease Progression
Tolvaptan (Jynarque or Jinarc) is a medication approved to slow the decline of kidney function in adults with ADPKD. It works by blocking vasopressin, a hormone that promotes cyst growth, thereby reducing cyst growth and preserving kidney function.
Eligibility for tolvaptan includes adults with chronic kidney disease stages 2 or 3 who show evidence of rapidly progressing kidney disease. This medication requires careful monitoring, particularly liver function, due to a risk of liver injury, especially during the first 18 months. Regular blood tests are performed monthly for the first 18 months, then every three months, to detect liver issues.
Common side effects of tolvaptan are related to its aquaretic effect, leading to increased urination, thirst, and frequent nighttime urination. Patients may need to drink 2-3 liters of water daily to prevent dehydration. Tolvaptan is the primary disease-modifying drug, and research continues into other potential therapies.
Lifestyle Adjustments for Kidney Health
Maintaining adequate hydration is a lifestyle adjustment for individuals with ADPKD. Drinking plenty of water throughout the day helps reduce the risk of kidney stone formation.
Dietary considerations play a role in supporting kidney health. A low-sodium diet is recommended to help control blood pressure. Limiting salt intake to less than 6 grams per day, or about one teaspoon, is common. Protein intake should be moderate, as advised by a healthcare professional.
Consistent blood pressure monitoring is important. For pain management, non-pharmacological methods like heat/cold packs or gentle exercise can provide relief. Avoiding kidney-harming substances like NSAIDs is advised unless cleared by a doctor for short-term use. Regular physical activity (e.g., walking, biking, swimming) helps manage blood pressure and improve well-being; contact sports should be avoided to prevent kidney injury. Quitting smoking and moderating alcohol are also beneficial.
Treatments for Advanced Kidney Disease
When ADPKD progresses to advanced kidney failure, interventions are necessary to replace lost kidney function. Dialysis is one such treatment, which removes waste products and excess fluid from the blood. There are two main types of dialysis.
Hemodialysis involves circulating blood through an external machine that filters out waste and excess water, returning cleansed blood to the body. It is typically performed several times a week at a dialysis center, lasting around four hours. Peritoneal dialysis uses the abdominal lining (peritoneal membrane) to filter blood inside the body. A special solution is introduced into the abdomen, absorbs waste, and is then drained. This method offers the flexibility of being performed at home, often overnight.
Kidney transplantation is considered the preferred treatment option for end-stage kidney disease caused by ADPKD, offering improved quality of life compared to long-term dialysis. A transplant involves surgically placing a healthy kidney from a donor into the recipient’s body. Donors can be living or deceased. Following a kidney transplant, recipients must take immunosuppressive medications to prevent rejection.