What is Alport syndrome? It is an inherited disease for which gene mutations cause type IV collagen abnormalities in certain connective tissue found in the kidneys, ears and eyes. Because of this collagen defect, kidney damage occurs and eventually leads to kidney failure. Also, the irregular collagen of the ears can lead to hearing loss. As for the eyes, lenses are misshaped and retina color abnormal. These eye problems may cause decreased vision, but usually not blindness.
The nature of the damage to your kidneys is progressive fibrosis of the glomeruli and tubules caused by nephritis. Thus, this health condition is also referred to a hereditary nephritis. Kidney inflammation occurs because the abnormal collagen reacts to proteins being filtered out of your blood. Overtime, gradual scarring prevents waste and fluid to be appropriately removed from your blood.
Alport syndrome is a rare condition. And its cause of severe kidney damage and other health effects are mostly seen in males. For women, this health condition effects are typically mild causing few or no symptoms.
Because the kidney damage caused by Alport syndrome slowly develops, symptoms are not likely initially. Once the destruction becomes significant, your symptoms might include:
- flank pain
- hematuria
- proteinuria
- hypertension
- facial swelling
- overall swelling
- lower extremity edema
For men, their deafness, vision problems and end-stage kidney disease can be expected by middle age.
Alport syndrome initial treatment largely involves treating your symptoms caused by chronic kidney disease, for instance adjusting your diet, fluid limitation and controlling blood pressure. Ultimately, you’ll likely require dialysis or a kidney transplant.