By Dr. Hasit Patel, Nephrology
Alport Syndrome is a genetic disease which affects your kidneys, eyes and the ears. However, the condition is primarily a progressive kidney disorder characterized by inflammation of the glomerulus; the blood vessels of the nephron (the structural and functional unit of the kidneys). Hence, the disease is considered to be a type of nephritis.
1. Causes - A genetic defect is responsible for most cases of Alport syndrome. The gene mutation affects the type IV collagen (the protein of the connective tissues).
2. Types - Alport Syndrome can be of three different types, which are:
A. X- Linked Alport Syndrome - This is the most common type and affects men more adversely than it affects women.
B. Autosomal dominant Alport Syndrome - This is a rare type of the disease and affects both genders.
C. Autosomal recessive Alport Syndrome - Both genders are affected by this type equally.
A. Kidney Symptoms - Blood is found in the urine from a young age. Other signs are flank pain, abnormal color of urine and high blood pressure.
B. Ear Symptoms - Alport Syndrome leads to loss of hearing in males during their teens while females are affected later in life.
C. Eye Symptoms - Vision is blurred and disturbed along with pain in the eyes, redness and burning. The lens is distorted and clouded and a condition called cataract (which usually develops at an advanced age) is caused in young patients.
4. Treatment - The various associated conditions of the syndrome have to be treated separately. Kidney disorders are treated by dialysis or kidney transplant. Also, spices, sodium and potassium salts and fluids are limited in the patient’s diet.
Hearing problems can be rectified by hearing aids. Eye conditions have to be treated according to the specific case requirements. Patients of Alport Syndrome often need cataract surgery.