Alport syndrome

What is Alport syndrome?

Alport syndrome is one of the rare genetic diseases that affect the kidney and may lead to kidney failure with time. Additionally, both the hearing and vision of patients will be impacted with time. It is considered rare since it occurs in 1 case out of 50,000 newborns. This mutation causes a defect in the structure of an important protein called Collagen. Collagen plays an important role in maintaining healthy tissue in the eyes and ears.

What are the symptoms of Alport syndrome?

1. Blood in the urine (hematuria), the most common and earliest sign.
2. High blood pressure (hypertension). 
3. Protein in the urine (proteinuria).
4. Swelling in the legs, ankle, feet, and around the eyes (called edema).

How to diagnose Alport syndrome?

Several tests are conducted to diagnose Alport syndrome including the following:

1. Urine test: to check if there are protein and blood in the urine.
2. Blood test: to check the protein level in blood.
3. Glomerular filtration rate (GFR): to check the filtration rate.
4. Kidney biopsy:  to conduct pathology studies on the kidney tissue after taking a sample.
5. Hearing test: A test will be done to check the hearing.
6. Vision test: A test will be done to check the vision.
7. Genetic test: to confirm the diagnosis and determine the genetic type of Alport syndrome.

How is Alport syndrome treated?

Currently, there is no specific treatment for Alport syndrome. The goal is to treat the symptoms and help slow the progression of kidney disease. Treatment includes the following:

1. ACE inhibitor or ARB medicines.
2. Diuretics.
3. Limit sodium (salt) in your diet
4. Kidney transplantation.