病例报告: 儿科患者患有晚发病的慢性疼痛
Amanda Cao1, Raquel van Gool1, Emma Golden1
1Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Frontiers in pain research (Lausanne, Switzerland)
|October 16, 2023
概括
晚发佩病 (LOPD) 可以导致儿童的慢性疼痛和心理症状. 与酶替代疗法 (ERT) 相结合的多学科方法对于治疗疼痛和改善生活质量至关重要.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 庞培病 (PD) 是一种罕见的遗传代谢疾病,由酸α-葡萄糖酶 (GAA) 缺乏引起,导致 lysosomal glycogen分解受损.
- 在PD中常见的监测症状包括肌肉衰弱,呼吸系统问题和胃肠道问题.
- 疼痛和相关的心理症状在儿科PD患者中经常被忽视.
研究的目的:
- 介绍一个患有晚发佩病 (LOPD) 的儿科患者的病例,该患者经历了严重的慢性疼痛.
- 描述患有伴随性疼痛和心理疾病的儿童LOPD的诊断旅程和管理.
- 强调需要在儿科LOPD中制定全面的疼痛管理策略.
主要方法:
- 一个儿科患者的病例报告,在9岁时被诊断出患有LOPD.
- 临床评估,包括针对GAA缺乏症的基因检测.
- 启动用阿尔果糖酶α的酶替代疗法 (ERT).
- 实施多学科疼痛治疗方法,涉及骨科,物理治疗和心理治疗.
主要成果:
- 患者出现了从幼儿时期开始的慢性脚痛,进展到下半身疼痛,虚弱,疲劳和行走困难.
- 伴随性疾病包括抑郁情绪,焦虑和注意力缺陷多动障碍,可能会加剧疼痛.
- 除了ERT,还启动了一个多学科的疼痛管理计划.
结论:
- 这一案例强调了在儿科LOPD中识别和解决慢性疼痛的重要性.
- 与ERT集成的多学科疼痛治疗策略对于管理LOPD患者至关重要.
- 需要进一步的研究来优化LOPD儿童的疼痛识别和治疗方法.
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