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评估CRMS/CFSPID表型和结果:来自英国一个大型囊性纤维化中心的回顾性研究

Alison Mansfield^1,2, Christopher Hine¹, Prasad Nagakumar¹

¹Birmingham Children's Hospital, Birmingham, United Kingdom.

|November 18, 2024

概括

大多数患有囊性纤维化转膜导电调节器代谢综合征/囊性纤维化查阳性,不确定的诊断 (CRMS/CFSPID) 的儿童保持健康. 这表明,对于CRMS/CFSPID患者来说,可能适合一种不那么密集的监测方法.

科学领域:

儿科儿科儿科
遗传学遗传学是一个
肺部病理学肺部病理学

背景情况:

囊性纤维化跨膜导电调节器代谢综合征/囊性纤维化查阳性,不确定的诊断 (CRMS/CFSPID) 是指新生儿查阳性囊性纤维化 (CF) 的婴儿,其中不能确认或排除CF的名称.
了解CRMS/CFSPID患者的长期临床结果对于指导管理策略至关重要.

研究的目的:

描述被诊断患有CRMS/CFSPID的儿童的长期临床结果.
评估这个队列中囊性纤维化 (CF) 的进展率.
为了告知CRMS/CFSPID患者医疗监测中的潜在调整.

主要方法:

在被诊断为CRMS/CFSPID的儿童中进行了一项回顾性单中心研究.
分析了2007年2月1日至2022年8月1日的数据,包括基线和纵向评估.
评估了临床数据,包括CFTR变异,汗液化物水平和感染的存在.

主要成果:

在30名患有CRMS/CFSPID的儿童中,发现了13种CFTR变异,其中F508del和R117H 7T/9T是最常见的.
五名儿童 (18.5%) 在平均随访时间为8.5年后发展为CF,平均年龄为9.5岁.
大多数儿童的胰腺功能仍然充足,体重和螺旋计Z分数通常高于-2.2. 早期的汗水化物水平在那些进展为CF的人中较高,但这在统计学上并不显著.

结论:

大多数被诊断为CRMS/CFSPID的儿童保持良好的健康状况,其CF进展率较低.
这些发现支持考虑对CRMS/CFSPID患者采取不那么密集的医疗监测方法.
专门的CRMS/CFSPID诊所对于青少年的评估很重要,以检测晚期发病的CF进展.

关键词:

在CRMS/CFSPIDID上进行.囊性纤维化症是什么新生儿查新生儿查螺旋测量是一种螺旋测量.

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