title: Alport's syndrome: can carriers be identified by audiometry?
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.
authors.affiliation: Welsh Hearing Institute, University Hospital of Wales, Cardiff, UK.
authors.forename: K S
authors.initials: KS
authors.lastname: Sirimanna
authors.forename: E
authors.initials: E
authors.lastname: France
authors.forename: S D
authors.initials: SD
authors.lastname: Stephens
mesh_terms: D000328:Adult; D000368:Aged; D001301:Audiometry, Pure-Tone; D005260:Female; D006580:Genetic Carrier Screening; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis; D006801:Humans; D008297:Male; D008875:Middle Aged; D009394:Nephritis, Hereditary / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D012737:Sex Factors; D014960:X Chromosome