重新考虑诊断:非CF支气管支气管病的异常汗液化物测试
Reyna L Huang1, Matthew T Snyder2, Nuzhat Fahmida3
1School of Medicine, University of Virginia, Charlottesville, Virginia, USA.
囊性纤维化 - - 成年人患有肺病和非典型病原体的跨膜导电性调节器相关障碍 (CFTR-RD),即使没有明确的遗传CF诊断. 进一步研究CFTR功能障碍和基因修饰剂是有必要的.
科学领域:
- 肺部病理学 肺部病理学
- 遗传学 遗传学 是一个
- 医学诊断 医学诊断 医学诊断
背景情况:
- 囊性纤维化 (CF) 诊断通常是明确的,但有些病例存在诊断挑战.
- 肌痛性肌痛查阳性,不确定的诊断 (CFSPID) 和肌痛性肌痛跨膜行为调节器相关疾病 (CFTR-RD) 代表了这种模两可的诊断类别.
- 在成年人中观察到的CFTR-RD是CFSPID的同类类别.
研究的目的:
- 描述成年CFTR-RD患者的临床特征.
- 在这个队列中调查慢性肺病和特定病原体的患病率.
- 在没有确定的基因CF诊断的情况下,探索CFTR功能障碍的潜在潜在机制.
主要方法:
- 对成人患者 (n=23) 的回顾性图表审查,这些患者提交了肺病诊所.
- 纳入标准:通过非诊断性CFTR基因分析进行中等或阳性汗液化物测试.
- 分析临床表现,汗液化物水平和唾液培养结果.
主要成果:
- 平均汗液中化物水平为48 mmol/L.
- 大多数队列表现出慢性肺病.
- 不典型的病原体,包括Pseudomonas aeruginosa和非结核菌菌,在培养物中经常被发现.
- 观察到的病原体包括Acinetobacter物种和其他物种.
结论:
- 临床表现表明,在没有确定的CF遗传原因的患者中,CFTR功能障碍或类似的机制.
- 进一步的研究应该探索替代化物道及其基因.
- 建议对这组患者进行CF表型的基因修饰剂的研究,包括与炎症和CFTR相互作用相关的基因修饰剂.
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