Polycystic Kidney Disease and Kidney Cysts
Polycystic kidney disease is the most common inherited cause of kidney failure. It causes fluid-filled cysts to develop in the kidneys, which gradually enlarge over time and reduce kidney function. Simple cysts, by contrast, are extremely common and almost always harmless. Distinguishing between the two, and providing the right care for genuine PKD, is a specialist task.
Dr Rory McQuillan provides assessment, monitoring, and treatment for the full range of cystic kidney conditions, including genetic counselling and tolvaptan therapy where indicated.
Simple kidney cysts versus polycystic kidney disease
Simple cysts are isolated fluid-filled sacs that appear in otherwise healthy kidneys. They become more common with age and rarely cause symptoms or kidney impairment. Polycystic kidney disease is different. It is an inherited condition in which large numbers of cysts develop progressively, enlarging the kidneys and impairing function over decades.
Types of polycystic kidney disease
There are two main inherited forms:
- Autosomal Dominant Polycystic Kidney Disease (ADPKD): the most common form, usually presenting in adulthood. Each child of an affected parent has a 50% chance of inheriting the gene.
- Autosomal Recessive Polycystic Kidney Disease (ARPKD): a rarer form that presents in infancy or childhood.
Symptoms and complications
Many people with ADPKD have no symptoms in early adulthood. As cysts enlarge, symptoms may develop and can include:
- High blood pressure (often the earliest sign)
- Pain in the back, flanks, or abdomen
- Blood in the urine
- Recurrent urinary or kidney infections
- Kidney stones
- Gradually declining kidney function
- Cysts in other organs, particularly the liver
Diagnosis and family screening
ADPKD is diagnosed with ultrasound, CT, or MRI based on the number and size of cysts and family history. Genetic testing is available where the diagnosis is uncertain or to clarify status before family planning. Family screening is offered to first-degree relatives and is an important part of comprehensive care.
Treatment and monitoring
Modern treatment for ADPKD includes blood pressure control, lifestyle measures, hydration, and in selected patients tolvaptan, a medication that slows the rate of kidney function decline. Eligibility for tolvaptan is based on age, rate of progression, and total kidney volume. Treatment also includes managing complications such as kidney stones, infections, and pain, and planning ahead for advanced therapies if needed.
Living with PKD
ADPKD is a long-term condition, but many patients live with stable disease for decades. Regular monitoring, attention to blood pressure, and access to specialist input as needed are the foundations of long-term care. Genetic counselling and family screening matter not just for the patient but for the next generation.
Appointments
Appointments for PKD assessment, family screening, or tolvaptan consideration are arranged by GP referral.
Frequently Asked Questions
With ADPKD, each child of an affected parent has a 50% chance of inheriting the gene. Specialist screening can clarify your status. Many people with the gene live a normal lifespan with appropriate care.
Simple cysts are almost always harmless and require no treatment. They are often found incidentally during scans for other reasons.
Tolvaptan is a medication that can slow the progression of ADPKD in patients who meet specific criteria. It requires careful monitoring of liver function and is prescribed in specialist clinics.
Around half of people with ADPKD will eventually require dialysis or transplantation, typically in their fifties or sixties. With newer treatments this is changing.
Yes. Many people with ADPKD have children. Genetic counselling can help with family planning decisions.
Have a Question?
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Please note: Appointments are arranged via GP referral.