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A step forward for an intermediate cystic fibrosis population
European Respiratory Journal ( IF 24.3 ) Pub Date : 2022-08-04 , DOI: 10.1183/13993003.01040-2022
Susan E Birket 1
Affiliation  

Cystic fibrosis (CF) is a life-long and life-shortening disease, best treated with early interventions to prevent complications across multiple organs and to extend the lifespan of this population. In the USA and Europe, the diagnosis of CF occurs primarily through newborn screening [1]. Newborns with two defective copies of the cystic fibrosis transmembrane conductance regulator (Cftr) gene have elevated levels of immuno-reactive trypsinogen (IRT) in their serum. A high IRT result at birth triggers a confirmatory test for diagnosis that involves a functional assay, such as sweat chloride concentration measured by evaporimetry. Normal sweat chloride concentration by this method falls in a range of 29 mmol·L–1 or lower while a CF diagnosis is made when sweat chloride reaches values of 60 mmol·L–1 or higher [2]. However, some patients fall into an intermediate range with sweat chloride results ranging between 30 and 59 mmol·L–1. For these patients, it is not known if they are carriers of a mutation to the gene or if they have two mutated copies of the Cftr [3]. Because the rare mutations can be difficult to identify [4], this distinction is important.



中文翻译:

中间囊性纤维化人群向前迈进了一步

囊性纤维化 (CF) 是一种终生和缩短生命的疾病,最好通过早期干预进行治疗,以预防多个器官的并发症并延长该人群的寿命。在美国和欧洲,CF 的诊断主要通过新生儿筛查进行 [1]。具有两个缺陷拷贝的囊性纤维化跨膜电导调节因子 ( Cft r ) 基因的新生儿在其血清中具有升高的免疫反应性胰蛋白酶原 (IRT) 水平。出生时的高 IRT 结果会触发诊断的确认性测试,该测试涉及功能测定,例如通过蒸发法测量的汗液氯化物浓度。用这种方法测得的正常汗液氯化物浓度在 29 mmol·L –1范围内或更低,而当汗液氯化物达到 60 mmol·L –1或更高时诊断为 CF [2]。然而,一些患者的汗液氯化物结果介于 30 和 59 mmol·L –1之间。对于这些患者,尚不清楚他们是否是基因突变的携带者,或者他们是否有两个Cftr [3] 突变拷贝。因为罕见的突变很难识别[4],所以这种区别很重要。

更新日期:2022-08-04
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