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  • Title: Alport's syndrome: can carriers be identified by audiometry?
    Author: Sirimanna KS, France E, Stephens SD.
    Journal: Clin Otolaryngol Allied Sci; 1995 Apr; 20(2):158-63. PubMed ID: 7634524.
    Abstract:
    Alport's syndrome is characterized by familial nephropathy with haematuria, sensorineural hearing loss and ocular abnormalities. It is transmitted as an X-linked dominant condition. In the affected males the symptoms are severe compared with females who show a more variable clinical picture due to the effect of lyonization of the X-chromosome. The diagnosis of carriers of genetic disease is extremely valuable for the purpose of counselling the patients as well as their relatives. A number of attempts have been made in the past to diagnose these carriers. Some studies have shown that it is possible to diagnose carriers of conditions where hearing loss is a symptom, by sensitive audiometric techniques. In this study we examined obligate and possible carriers of Alport's syndrome with pure-tone audiometry (PTA) and the audioscan method. We found that all obligate carriers and a predictable proportion of possible carriers had either a hearing loss on PTA or a mid frequency notch in the audioscan.
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