Today, we talk about Alport Syndrome—a genetic condition that affects the kidneys, ears, and eyes. It causes blood in urine, hearing loss, and kidney failure over time.
Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading medical geneticists, has helped many families diagnose and manage Alport Syndrome. Early testing and treatment can protect kidney function and improve quality of life.
What is Alport Syndrome?
Alport Syndrome is an inherited condition that weakens collagen, a key protein that supports the kidneys, ears, and eyes. As a result:
✔ Kidneys get damaged – Blood leaks into urine (hematuria), leading to kidney disease.
✔ Hearing loss develops – Usually begins in childhood or teenage years.
✔ Eyes can have peculiar findings – Some people have a white ring in the cornea (anterior embryotoxon).
💡 It affects boys more severely, but girls can also have symptoms.
Common Symptoms of Alport Syndrome
✔ Blood in urine (Hematuria) – Often the first sign, usually in early childhood.
✔ Hearing loss – Parents may notice the child struggles to hear soft sounds.
✔ Kidney disease – Protein in urine and high blood pressure as kidney damage worsens.
✔ Eye changes – Some people have a faint white or grey ring in the cornea.
✔ Swelling in legs – Happens in later stages due to kidney failure.
💡 The condition worsens over time, but early treatment can slow it down.
How Does Alport Syndrome Run in Families?
💡 Alport Syndrome is genetic, meaning it is passed down in families.
✔ The most common type is X-linked Alport Syndrome. This means boys inherit it from their mothers and have more severe symptoms.
✔ Girls with the gene may have mild or no symptoms, but they can pass it to their children.
✔ In some rare cases, both parents pass on the faulty gene, making symptoms severe in both boys and girls.
💡 Many families discover the condition after multiple relatives have hearing loss or kidney disease.
Dr. Roshan Daniel’s Experience with Alport Syndrome
✅ Most boys come with blood in urine at an early age.
✅ Hearing loss often runs in the family, usually from the mother’s side.
✅ Some parents first notice hearing issues before kidney problems.
✅ Eye tests sometimes show a faint white ring in the cornea.
✅ Some families only discover Alport Syndrome after a relative develops kidney failure.
💡 Cost of Testing (as of February 2025):
✔ Urine & Blood Tests: ₹2,000 – ₹5,000
✔ Kidney Biopsy (If Needed): ₹15,000 – ₹25,000
✔ Genetic Testing (COL4A3, COL4A4, COL4A5 Genes): ₹20,000 – ₹30,000, results in 14 working days
How is Alport Syndrome Diagnosed?
Doctors use different tests to confirm Alport Syndrome:
✔ Urine Test – Looks for blood and protein leakage.
✔ Blood Test – Checks kidney function.
✔ Hearing Test – Detects early hearing loss.
✔ Eye Exam – Finds white or grey rings in the cornea.
✔ Kidney Biopsy – Looks at kidney tissue under a microscope.
✔ Genetic Testing – Confirms the condition and helps screen family members.
💡 If one family member has Alport Syndrome, other relatives should be tested too.
How is Alport Syndrome Managed?
There is no cure, but treatment helps slow kidney damage and prevent complications.
🔹 Blood Pressure Medications – Help protect the kidneys.
🔹 Healthy Diet – Low salt and protein intake reduces kidney strain.
🔹 Hearing Aids – Improve hearing as loss progresses.
🔹 Regular Eye Checkups – Helps detect vision problems early.
🔹 Dialysis or Kidney Transplant – Needed in severe cases.
💡 Starting treatment early can delay kidney failure by many years.
FAQs on Alport Syndrome
💡 What causes Alport Syndrome?
It is caused by faulty collagen genes (COL4A3, COL4A4, COL4A5). This weakens the kidneys, ears, and eyes.
💡 Can Alport Syndrome run in families?
Yes. If a parent has it, there is a high chance of passing it to children.
✔ X-linked Alport Syndrome (most common) – Passed from mother to son, affecting boys more severely.
✔ Autosomal Alport Syndrome – Affects both boys and girls equally, depending on inheritance type.
💡 Can it be diagnosed before symptoms appear?
Yes. Genetic testing and urine tests can confirm Alport Syndrome before kidney damage starts.
✔ Early diagnosis helps in starting protective treatments.
💡 Can Alport Syndrome be diagnosed before birth?
Yes. If a parent has Alport Syndrome, prenatal genetic testing (amniocentesis or CVS) can check if the baby has it.
💡 Cost of Prenatal Testing: ₹35,000 (as of February 2025)
💡 Can people with Alport Syndrome live normal lives?
Yes! With early treatment, many people delay kidney failure and manage hearing loss.
✔ Regular check-ups help slow down kidney disease.
✔ Hearing aids improve quality of life.
✔ A kidney transplant can help when kidney failure happens.
💡 Dr. Roshan Daniel has helped many Alport Syndrome patients maintain kidney function and manage symptoms.
💡 What happens if Alport Syndrome is not managed?
Without proper care, it can lead to:
✔ Permanent hearing loss
✔ Severe kidney failure needing dialysis or transplant
✔ High blood pressure and other complications
💡 Starting treatment early can prevent serious health issues.
💡 Can Alport Syndrome affect future pregnancies?
Yes. If one parent has Alport Syndrome, each child may inherit the condition, depending on the type.
✔ Prenatal testing (₹35,000) can check if an unborn baby has it.
✔ IVF with Preimplantation Genetic Diagnosis (PGD) can help select healthy embryos.
💡 Dr. Roshan Daniel has helped many families understand their risks and plan for safe pregnancies.
Genetic Testing and Counselling for Alport Syndrome
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we offer:
✔ Urine and blood tests for early diagnosis
✔ Genetic testing for COL4A3, COL4A4, COL4A5 mutations
✔ Kidney health monitoring and treatment plans
✔ Family screening and genetic counselling
✔ Online consultations for remote patients
If you or a family member has blood in urine, hearing loss, or a family history of kidney disease, early testing can help prevent complications.
Join Us in Spreading Awareness!
Alport Syndrome is often undiagnosed until serious kidney disease develops. Spreading awareness about early testing and treatmentcan help families delay kidney failure and improve quality of life.
📢 No disease is too rare to care. Join us in spreading awareness and ensuring that families get the right information and care.
For expert advice on genetic testing, counselling, or Alport Syndrome care, contact Dr. Roshan Daniel at KIMSHealth today! 💙