阿尔斯特罗姆综合征:通往诊断的旅程
Akshat Sinha1,2,3, Kerry Leeson-Beevers4,5, Catherine Lewis4,5
1Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, B15 2TH, UK. axs1745@student.bham.ac.uk.
Orphanet journal of rare diseases
|January 6, 2025
概括
阿尔斯特罗姆综合征 (AS) 诊断往往是延迟的,大多数患者等待超过五年. 早期识别婴儿快速肥胖,视力障碍和心肌病等关键症状对于更快的诊断和更好的结果至关重要.
科学领域:
- 遗传学和罕见疾病.
- 临床诊断 临床诊断 临床诊断
- 患者的治疗结果.
背景情况:
- 阿尔斯特罗姆综合征 (AS) 是一种极为罕见,复杂的遗传疾病,具有多样化和渐进的症状.
- 关键的表现包括视网膜缩,听力损失,肥胖,胰岛素抵抗,糖尿病和心肌病.
- 由于症状呈现多样化,延迟诊断很常见,在英国影响了88人.
研究的目的:
- 提高对阿尔斯特罗姆综合征关键症状的认识,以加快诊断.
- 为了识别促使早期识别的"红旗"症状.
- 改善AS患者的患者体验和长期健康结果.
主要方法:
- 在2022年8月至10月期间使用ASUK数据库进行的研究.
- 涉及与家庭进行的半结构化采访以及对社会护理和教育的审查.
- 采用以患者为中心的方法,采用开放式问题.
主要成果:
- 在17名新诊断的患者中,只有24%在一年内得到诊断.
- 患有视力障碍和心肌病的患者经历了更快的诊断.
- 41%的参与者等待了五年多的诊断,影响了治疗机会.
结论:
- 阿尔斯特罗姆综合征诊断的显著延迟仍然存在,大多数患者在症状出现5-20年后被诊断出来.
- 快速发展的婴儿肥胖应该是AS的关键诊断标志.
- 视力受损 (88%) 和心肌病 (59%) 是常见的初始表现,有助于早期检测.
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