What condition is characterized by recurrent hematuria, sensorineural deafness, and a family history of renal failure?

Prepare for the UWorld Pediatrics Test with comprehensive practice questions. Study effectively with detailed explanations and exam-simulated scenarios. Boost your confidence and ace your test!

Alport's syndrome is characterized by a triad of symptoms that includes recurrent hematuria (blood in urine), sensorineural deafness (hearing loss), and a family history of renal failure. This genetic condition primarily affects the kidneys and the ears due to mutations affecting type IV collagen, which is a crucial component of the basement membranes in these tissues.

In individuals with Alport's syndrome, the kidney's filtering units—the glomeruli—sustain damage over time, leading to hematuria and eventually progressing to chronic kidney disease or renal failure. The associated sensorineural hearing loss may appear in childhood or adolescence and is often one of the more prominent features that prompt diagnosis, especially when there is a hereditary pattern, as it is often inherited in an X-linked manner, although autosomal recessive and dominant forms exist as well.

Conditions like nephrotic syndrome, focal segmental glomerulosclerosis, and minimal change disease primarily involve proteinuria and edema, with hematuria not being a classic feature. They also do not typically present with hearing loss or a direct familial link to renal failure in the same manner as Alport's syndrome. This distinct combination of symptoms is what makes Alport's syndrome the correct answer.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy