From the Guidelines
When explaining a diagnosis of Polycystic Kidney Disease (PKD) to a patient, it is essential to use clear, compassionate communication that balances honesty with hope, as recommended by the kdigo 2025 clinical practice guideline 1.
Key Points to Discuss
- PKD is a genetic disorder causing fluid-filled cysts to develop in the kidneys, which can gradually impair kidney function over time.
- The patient should be informed about the type of PKD they have, whether it is autosomal dominant PKD (more common, appearing in adulthood) or autosomal recessive PKD (rarer, appearing in childhood).
- Specific symptoms they may experience, such as high blood pressure, kidney pain, urinary tract infections, and kidney stones, should be discussed.
- Management focuses on controlling blood pressure, treating infections promptly, and maintaining kidney function, as outlined in the kdigo 2025 clinical practice guideline 1.
Treatment and Management
- Controlling blood pressure is crucial, often with ACE inhibitors like lisinopril or ARBs like losartan at standard doses.
- Tolvaptan may be a treatment option for appropriate patients to slow disease progression.
- Lifestyle modifications, including adequate hydration, low-sodium diet, regular exercise, and avoiding nephrotoxic medications, should be encouraged.
Follow-up and Monitoring
- A follow-up plan with regular monitoring of kidney function, blood pressure, and imaging should be established.
- The Mayo Imaging Classification (MIC) can be used to predict future decline in kidney function and the timing of kidney failure, as recommended by the kdigo 2025 clinical practice guideline 1.
Genetic Counseling and Family Planning
- The hereditary nature of PKD should be addressed, and genetic counseling referrals should be offered for family planning.
- Genetic testing may be helpful in cases involving few kidney cysts, variable intrafamilial disease severity, or young living-related kidney donors at risk of ADPKD, as outlined in the kdigo 2025 clinical practice guideline 1.
From the Research
Explaining Diagnosis of Polycystic Kidney Disease to a Patient
When explaining a diagnosis of Polycystic Kidney Disease (PKD) to a patient during an OSCE, consider the following key points:
- Family History: Emphasize the importance of family history in the diagnosis of ADPKD, as it is a genetic disorder 2.
- Imaging Studies: Explain that imaging studies such as ultrasound, computed tomography, and magnetic resonance imaging (MRI) are crucial in diagnosing and monitoring PKD 3, 4.
- Symptoms and Complications: Discuss the common symptoms and complications associated with PKD, such as gross hematuria, cyst infection, and urinary tract infection 5.
- Genetic Diagnosis: Mention that genetic diagnosis can help establish the diagnosis and may benefit families in terms of clinical management and emerging therapeutic options 6.
Approaching the Explanation
When explaining the diagnosis to the patient:
- Use Simple Language: Avoid using complex medical jargon and explain the diagnosis in simple terms.
- Provide Reassurance: Offer reassurance and support, as a diagnosis of PKD can be alarming and overwhelming for the patient.
- Discuss Management and Treatment: Explain the available management and treatment options for PKD, including lifestyle modifications and medical interventions.
- Address Concerns and Questions: Allow the patient to express their concerns and questions, and address them in a clear and empathetic manner.
Key Points to Cover
Some key points to cover when explaining the diagnosis of PKD to a patient include:
- The genetic basis of the disease and the risk of transmission to family members 6, 2.
- The importance of regular monitoring and follow-up appointments to track the progression of the disease 3, 4.
- The potential complications and symptoms associated with PKD, such as hematuria, cyst infection, and urinary tract infection 5.
- The available treatment options and management strategies for PKD, including lifestyle modifications and medical interventions.