A young boy who is deaf and has bilateral cataracts is brought to the clinic. The parent found blood in the toilet after the boy
voided. Urinalysis confirms heavy microscopic hematuria as well as proteinuria. What will the health care team’s initial differential diagnosis most likely be?
Alport syndrome is a genetic disorder that can be recognized by kidney disease (eventually failure), eye abnormalities and loss of hearing.
The deafness and eye problems are usually seen before the kidney disease, however when seen all together, the symptoms lead to doctors looking for this genetic disorder.
Urinalysis confirms blood and proteins found in the urine. This means that the kidneys are not filtering the blood properly, and are damaged.
