What is Alport Syndrome?
- Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Alport syndrome refers to a kind of heterogeneous and inherited disorders that are connected with the basement membranes of kidneys. The syndrome also affects the eyes and cochlea. Statistically, Alport syndrome affects one in every fifty thousand children. The distinguishing features are hematuria, proteinuria, hearing loss, end-stage kidney disease, glomerulonephritis, and problems with eyesight.
- The three classifications of Alport syndrome are: autosomal recessive Alport syndrome (ARAS), X-linked Alport syndrome (XLAS), and autosomal dominant Alport syndrome (ADAS).
X-linked Alport syndrome: X-linked (related to the X chromosome) is the most common form of Alport Syndrome. About 80% of the people with this disease have the X-linked type. Boys with this type are severely affected and always develop kidney failure sometime in their lives. Girls with this type usually have milder symptoms than boys, but they can develop kidney failure.
Autosomal recessive Alport syndrome (ARAS): This is when both parents carry the abnormal gene and both parents pass the abnormal gene to the child. Both copies of the abnormal gene are needed to cause the autosomal recessive type of Alport Syndrome.
Autosomal dominant Alport syndrome (ADAS): This happens when one parent has the disease and passes the abnormal gene to the child. In other words, only one copy of the abnormal gene is needed to cause the disease.
What are the signs and symptoms of Alport syndrome?
- With all types of Alport syndrome the kidneys are affected. The tiny blood vessels in the glomeruli of the kidneys are damaged and cannot filter the wastes and extra fluid in your body. Many people with Alport syndrome also have hearing problems and abnormalities with their eyes.
Other signs and symptoms may include:
- Blood in the urine (hematuria), the most common and earliest sign of Alport syndrome
- Protein in the urine (proteinuria)
- High blood pressure (hypertension)
- Swelling in the legs, ankle, feet and around the eyes (called edema)
These signs and symptoms may differ, based on age, gender and inherited type of Alport syndrome. For example, hearing and vision problems tend to be more common in males than females and high blood pressure is usually found later in life.
What is the cost of Alport syndrome treatment in India?
Which specialty of doctor to be consulted for the treatment of Alport syndrome in India?
- A Nephrologist is to be consulted for the treatment of Alport syndrome in India.
Which hospital to be preferred for Alport syndrome treatment in India?
- Medanta - The Medicity hospital in India is to be preferred for Alport syndrome treatment in India.
1. What causes Alport syndrome?
- Alport syndrome is an inherited disease, which means it is passed down through families. It is caused by changes in your genes (mutations) to a protein called collagen. Collagen is important to the normal structure and function of the kidneys. Changes to collagen can also cause problems with the eyes and ears. That's because collagen helps maintain healthy tissue in the eyes and ears.
2. What are the risks associated with Alport syndrome?
- Some of the risks associated with Alport syndrome are:
- Family history of this disease
- Hearing loss before the age of 30
- Last stage kidney disease in male relatives
3. What are the possible ways to prevent Alport syndrome?
- To prevent the occurrence of Alport syndrome, there are certain things one should take care of:
- Screening tests (including both primary and secondary screening)
- Awareness about risk factors
- Knowing about the family history of the disorder
4. How is Alport syndrome diagnosed?
- At Medanta in India, the following methods are used to diagnose Alport syndrome:
- Urine Tests
- Hematologic Studies
- Ultrasonography of kidneys
- Genetic Tests
- Ophthalmic Examination
- Audiometric Tests
5. How is Alport syndrome treated?
- At Medanta in India, doctors use the following procedures to treat the Alport syndrome
There are two modes that may be adopted to reduce the loss of protein in the urine by decreasing the intra-glomerular pressure. Angiotensin-converting enzyme inhibitors and Angiotensin receptor blockers, popularly called as ACEs and ARBs, may be recommended to people with proteinuria, even if they do not have hypertension. Another implication of using angiotensin inhibitor is slowing of sclerotic progression.
In adults with dyslipoproteinemia, statins may be used to decrease progression of Alport syndrome, which also prevents incidents of cardiovascular diseases. Some of these are:
- Stem cell therapy
- Chaperone therapy
- Anti-micro RNA therapy
- Collagen receptor blockade therapy
these methods are still under experimentation phase and are not yet approved for consumption by patients.
Surgical Therapy may be offered to those with end-stage renal diseases. One option is kidney transplantation in which a healthy kidney from a donor is used to replace an affected kidney in the patient. Usually, the syndrome will not recur in the transplanted kidney, and the allograft survival rate in these people would be similar to those with other kidney diseases. Sometimes, a membrane called anti-glomerular basement membrane in the nephritis may develop Alport syndrome after kidney transplantation, but this is a rare condition.