患有酸甲基酶缺乏症 (ASMD) 的患者的诊断旅程:利用定量和定性数据探索诊断的潜在指标
Andrew Doerr1, Maliha Farooq2, Chad Faulkner2
1Fulcrum Research Group, Waltham, MA, United States.
Molecular genetics and metabolism reports
|March 12, 2024
概括
诊断酸髓酶缺乏症 (ASMD) 是具有挑战性的,通常由于误诊和疾病变异性而延迟. 这项研究强调了ASMD患者及其家属的漫长诊断旅程.
科学领域:
- 罕见疾病是一种罕见的疾病.
- 溶酶体储存障碍 溶酶体储存障碍
- 遗传学和基因组学 遗传学和基因组学
背景情况:
- 酸髓酶缺乏症 (ASMD) 是一种罕见的,渐进的,可能致命的 lysosomal 储存疾病.
- 了解患者和医生的经验对于改善诊断时间表至关重要.
研究的目的:
- 为了研究ASMD型B或A/B的患者的诊断旅程.
- 从医生,患者和护理人员的角度来识别ASMD诊断的挑战和延迟.
主要方法:
- 这是一项由两部分组成的国际研究,结合了定性访谈和定量图表审查.
- 与12名医生,27名患者和护理人员进行的定性访谈 (2018年1月至2019年5月).
- 由86名医生对193份ASMD患者病历进行定量审查 (2020年4月至5月).
主要成果:
- 症状通常出现在2岁左右,诊断平均需要3年,平均年龄为5岁.
- 患者报告了显著的童年症状,如腹部膨胀 (100%) 和呼吸系统问题 (67%).
- 大多数患者 (85%) 接受了不正确的初始诊断,诊断延迟时间从0-10年不等.
结论:
- 由于疾病异质性和常见的错误诊断,ASMD诊断经常被推迟.
- ASMD的诊断过程是复杂而漫长的,影响患者和家人.
- 改善ASMD的诊断策略对于减少延迟和改善患者结果至关重要.
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