在CFSPID案件中,个性化医疗的创新策略随着时间的推移而演变
J Twynam-Perkins1, A Fall2, J W Lefferts3
1Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh, UK; Department of Child Life and Health, University of Edinburgh, UK.
Paediatric respiratory reviews
|July 5, 2023
概括
囊性纤维化转膜导电性调节器 (CFTR) 突变的临床表现可以随着时间的推移在儿童中演变. 定期监测对于准确诊断和管理这些患者至关重要.
科学领域:
- 儿科肺病学 儿科肺病学
- 遗传医学是一种遗传医学.
- 临床诊断 临床诊断 临床诊断
背景情况:
- 囊性纤维化 (CF) 诊断依赖于识别CFTR基因中的突变.
- 不确定的重要性突变 (MUS) 带来了诊断挑战,特别是在儿科患者群体中.
- 在CF的临床表现可能是可变的,随着时间的推移而变化.
研究的目的:
- 为了说明患有不确定的CFTR突变的儿童临床表现的动态性质.
- 强调纵向监测对于确认CF诊断的重要性.
- 根据不断变化的临床表型,突出诊断CF的挑战.
主要方法:
- 案例报告的呈现方式.
- 长度临床观察和随访.
- 对CFTR突变的遗传分析.
主要成果:
- 该病例表明,患有CFTR MUS.的儿童的临床症状的时间演变.
- 最初的表现是模两可的,但后来临床变化促进了确认CF诊断.
- 定期对患者进行检查对确定诊断轨迹至关重要.
结论:
- 与CFTR MUS相关的临床表现可能会发生变化,影响诊断时间表.
- 持续的患者监测和重新评估对于在儿科病例中准确诊断CF至关重要.
- 这一案例强调了需要一种动态方法来诊断患有未知临床相关性的基因变异的儿童的CF.
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