Alport's Syndrome-A Case Report- / 대한이비인후과학회지

ABSTRACT

Alport's syndrome is a genetic disorder of basement membranes manifested by a progressive nephropathy and sensorineural hearing loss and ocular lesions. Type 4 collagen, main component of basement membranes, is composed of six genetically distinct chains. Mutation of gene COL4A5 which encodes the 5 chain of type IV collagen may prevent the normal incorporation of 3 and 4 into basement membranes. Main clinical features of this syndrome are hematuria, sensorineural hearing loss, ocular abnormalities including lenticonus and cataract. The characteristics of audiological manifestations are bilateral moderate sensorineural hearing loss with recruitment phenomenon and normal latencies of waves in brain stem evoked response audiometry. We recently experienced a case of Alport's syndrome in 10 year old male patient with sensori-neural hearing loss and esophageal achalasia. We report this case with review of literatures.