Alport Syndrome - How To Diagnose It?

Alport Syndrome, first detected by Dr. A. Cecil Alport and named after him is a rare inherited disease. It affects the kidney and also the inner cochlea or ear and the eyes. Passed down through families, it is caused by genetic mutations that affect the type IV collagen family of proteins. Collagen is an important tissue that forms the basement structure of the kidney, inner ear and eye.
 

Types of Alport syndrome
X-Linked Alport Syndrome: A most common form of Alport Syndrome, boys who are affected with this type tend to develop serious complications and kidney failure.
Autosomal recessive Alport syndrome (ARAS): When both the parents carry the abnormal gene and pass it down to their offspring, this type of syndrome is caused. If affects the male and female with equal severity.
Autosomal dominant Alport syndrome (ADAS): This happens when the child inherits the abnormal gene from one of the parents. Only one copy is needed to cause a mutation.

Signs and symptoms of Alport syndrome

With all types of Alport Syndrome, the tiny blood vessels of the kidney called glomeruli are damaged and the kidney will be unable to filter the toxins from the body. The most common symptoms include:

1. Hematuria – Blood in the urine
2. Proteinuria – Protein in the urine
3. High blood pressure
4. Edema – Swelling in the legs, ankle, feet and around the eyes
5. Hearing and vision problems
6. Flank pain

Diagnosis

The following tests and examinations can be performed to assess the condition and type of Alport Syndrome:
1. Urine test – It helps in finding the presence of blood or protein in your urine
2. Glomerular Filtration Rate – The blood work assesses the levels of waste and protein in your blood
3. Kidney Biopsy – A tiny piece of kidney is removed with special needle and analyzed
4. Hearing Test – It checks, if hearing is affected
5. Vision Test – This is conducted to check any abnormalities in vision
6. Genetic Test – It determines the type of Alport syndrome and confirm the diagnosis

Treatment

There is no specific treatment for Alport Syndrome. However, treatment aims to relieve the symptoms and slow the progression of kidney disease.

1. Medications to control high blood pressure
2. Diuretics or water pills
3. Limiting salt or sodium intake in your diet
4. Kidney transplantation if patient is progressing towards kidney failure
5. Medications to slow down the onset of kidney damage

Awareness of family history of this disorder will help in detecting Alport Syndrome at an early stage and also help you take the right steps to prevent any further complications. Seek medical attention and contact a nephrologist immediately if you have a family history of this disease.