Here's everything you need to know about Alport syndrome

Alport syndrome is a highly genetic disorder, directly involving the kidneys but sometimes also affecting the eyes and ears.

- DR. SUMAN LATA

It results from various point mutations in the genes responsible for producing type IV collagen, a protein involved in basement membranes in different organs. Since the kidneys have a high concentration of basement membranes, they are especially vulnerable to this disorder.

HOW ALPORT SYNDROME AFFECTS THE KIDNEYS

The kidneys act as filters, removing waste products and excess fluids from the blood to maintain the body's balance, or homeostasis. In Alport syndrome, however, defective collagen leads to abnormalities in the tiny filtering units of the kidneys known as glomeruli. These abnormalities cause scarring in the glomeruli, gradually reducing their ability to function properly. Over time, this scarring leads to a decline in kidney function, which can result in serious kidney damage if not addressed.

Haematuria, or blood in the urine, is one of the first symptoms in patients with Alport yndrome. Later on, proteinuria and hypertension can follow with a progressive loss in kidney function. In time, most individuals with Alport syndrome progress to endstage kidney disease (ESKD), which then requires dialysis or transplant management.