摘要 : Objective To characterize the patterns of hearing loss and methods of hearing rehabilitation in the UK national cohort of adults with Alstrom syndrome. Study Design Retrospective review of electronic patient records. Setting UK Na... 展开 Objective To characterize the patterns of hearing loss and methods of hearing rehabilitation in the UK national cohort of adults with Alstrom syndrome. Study Design Retrospective review of electronic patient records. Setting UK National multi-disciplinary team (MDT) Alstrom service held at the Queen Elizabeth Hospital, Birmingham. Patients Forty one adult patients with a diagnosis of Alstrom syndrome, confirmed via ALMS1 gene sequencing, are under ongoing review within the UK National MDT Alstrom service. Main Outcome Measures Magnitude and type of hearing loss were analyzed using patients' audiometric data. Deterioration of hearing was calculated using serial pure tone audiograms. Methods of hearing rehabilitation used by patients and potential candidacy for cochlear implantation were analyzed. Results Of 34 patients with available audiograms, all had sensorineural hearing loss (SNHL). Dual sensory (visual and hearing) loss was present in 32/34 (94%) patients. Hearing deteriorated with advancing age, at 1.23 dB/yr. Severe- profound SNHL was present in 9/34 (26%) cases. Air conduction hearing aids were used in 27/34 (79%) cases, and cochlear implants in 2/34 (5%). Conclusions Alstrom syndrome is an ultra-rare genetic disorder with progressive, debilitating multi-system manifestations, including SNHL. The UK National MDT Alstrom service represents one of the largest reported adult cohorts in the world. SNHL in this group was ubiquitous, showing a rapid decline in hearing with age. Annual audiometric assessment to enable early diagnosis of hearing loss and optimum rehabilitation are paramount to minimize the impact of hearing loss in this condition. 收起