As part of our 28 Days, 28 Rare Diseases campaign, today we focus on Autosomal Dominant Polycystic Kidney Disease (ADPKD)—a genetic condition that causes fluid-filled cysts to grow in the kidneys, leading to kidney problems over time.
Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading medical geneticists, has helped many families understand and manage ADPKD. With early diagnosis and the right care, people with this condition can maintain kidney function and lead active lives.
What is ADPKD?
ADPKD is a genetic disorder where cysts form in the kidneys. These cysts grow bigger over time, leading to kidney swelling and damage. Some people do not have symptoms for years, while others develop kidney issues early in life.
Common Signs of ADPKD:
✔ High blood pressure (Hypertension) – One of the first signs
✔ Frequent kidney infections or pain in the sides
✔ Blood in urine (Hematuria)
✔ Increased risk of kidney stones
✔ Gradual loss of kidney function, leading to kidney failure in some cases
✔ Cysts in other organs, such as the liver
Many people first notice ADPKD in their 30s or 40s when they develop high blood pressure or abnormal kidney function tests.
Sometimes, a family member is diagnosed, and when we screen the relatives, we find younger individuals who have the disease but don’t have symptoms yet. Early detection helps them take steps to slow down kidney damage.
Dr. Roshan Daniel’s Experience with ADPKD
In practice, Dr. Roshan Daniel has seen ADPKD present in different ways:
✅ Some patients first come in their 30s or 40s with high blood pressure or abnormal kidney function.
✅ Some are diagnosed because a family member has ADPKD, and screening finds it in them too.
✅ Some people have mild disease and don’t show symptoms for many years.
✅ Early lifestyle changes have helped many patients slow kidney disease progression.
💡 Cost of Testing (as of February 2025):
✔ Ultrasound Scan: ₹2,000 – ₹5,000
✔ Genetic Test (PKD1 and PKD2 Gene Analysis): ₹15,000 – ₹25,000, results in 14 working days
How is ADPKD Diagnosed?
Doctors use different tests to confirm ADPKD.
✔ Ultrasound Scan – First step to check for kidney cysts.
✔ CT Scan or MRI – Gives a detailed view of the kidneys.
✔ Genetic Test (PKD1 and PKD2 Mutation Analysis) – Confirms ADPKD in doubtful cases.
✔ Family History Check – If a parent has ADPKD, their children have a 50% chance of inheriting it.
If one family member has ADPKD, siblings and close relatives should be tested, even if they have no symptoms yet.
Sometimes, we see that prospective donors (family members who wish to donate a kidney) also have ADPKD, because they are the parent, child, or sibling of the patient. Screening helps prevent unexpected surprises.
How is ADPKD Managed?
There is no cure, but early treatment can slow down kidney damage.
🔹 Control Blood Pressure – The most important step to protect kidneys.
🔹 Drink Plenty of Water – Helps prevent kidney stones and infections.
🔹 Follow a Low-Salt Diet – Reduces strain on the kidneys.
🔹 Manage Pain – Some cysts cause pain, which can be treated with medication.
🔹 Avoid Smoking and Alcohol – Protects kidney health.
🔹 Special Medicines (Tolvaptan) – Helps slow cyst growth in some patients.
💡 Early lifestyle changes and regular check-ups help delay kidney failure.
If kidney function worsens, dialysis or a kidney transplant may be needed.
With proper care, most people with ADPKD can live normal, active lives for many years.
Frequently Asked Questions (FAQs) on ADPKD
💡 What causes ADPKD?
ADPKD is caused by mutations in the PKD1 or PKD2 genes. These genes control kidney growth. When faulty, cysts start forming inside the kidneys.
💡 Is ADPKD inherited?
Yes. ADPKD runs in families. If one parent has ADPKD, each child has a 50% chance of inheriting it.
💡 Can ADPKD be found before symptoms appear?
Yes. An ultrasound scan or genetic test can confirm ADPKD before symptoms start.
✔ Genetic testing for family members is recommended.
✔ Early lifestyle changes help protect kidney function.
💡 Can ADPKD be diagnosed before birth?
Yes. If a parent has ADPKD, prenatal genetic testing (amniocentesis or CVS) can check if the baby has ADPKD.
💡 Cost of Prenatal Testing: ₹35,000 (as of February 2025)
💡 Can people with ADPKD live normal lives?
Yes! With proper care, people with ADPKD can live full, active lives.
✔ Managing blood pressure helps prevent complications.
✔ Staying hydrated reduces kidney problems.
✔ Regular check-ups monitor kidney function.
💡 Dr. Roshan Daniel has helped many ADPKD patients delay kidney problems and stay healthy.
💡 What happens if ADPKD is not managed?
Without proper care, kidney cysts grow bigger, leading to:
✔ High blood pressure and kidney infections
✔ Severe kidney pain and stones
✔ Gradual kidney failure, requiring dialysis or transplant
💡 Starting treatment early prevents these problems.
💡 Can ADPKD happen again in future pregnancies?
Yes. If one parent has ADPKD, each pregnancy has a 50% chance of passing on the condition.
✔ Prenatal testing (₹35,000) can check if an unborn baby has ADPKD.
✔ IVF with Preimplantation Genetic Diagnosis (PGD) can help ensure only healthy embryos are implanted.
💡 Dr. Roshan Daniel has guided many families in planning safe pregnancies through genetic counselling.
ADPKD vs ARPKD – What’s the Difference?
There are two types of Polycystic Kidney Disease:
✔ ADPKD (Autosomal Dominant PKD) – The type we are discussing in this post. Symptoms usually appear in adulthood, and a parent always has the condition.
✔ ARPKD (Autosomal Recessive PKD) – A rare, severe form that affects babies and young children. Both parents must be carriers for a child to be affected.
💡 This post is only about ADPKD, which is more common and affects adults.
Genetic Testing and Counselling for ADPKD
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we offer:
✔ Ultrasound and CT scans for ADPKD detection
✔ Genetic testing for PKD1 and PKD2 mutations
✔ Kidney health monitoring and personalized treatment plans
✔ Carrier screening for couples planning a baby
✔ Online consultations for remote patients
If you or a family member has kidney cysts, high blood pressure, or a family history of ADPKD, early testing can help prevent serious complications.
Join Us in Spreading Awareness!
ADPKD is manageable, but early detection is key. Spreading awareness about symptoms, testing, and lifestyle changes can help families delay kidney disease and improve quality of life.
📢 No disease is too rare to care. Join us in spreading awareness and ensuring patients get the right treatment at the right time.
For expert advice on genetic testing, counselling, or ADPKD care, contact Dr. Roshan Daniel at KIMSHealth today! 💙