Objectives

Aim of this study was to identify risk factors for a progression to cystic fibrosis (CF) in individuals detected as CF Screening Positive, Inconclusive Diagnosis (CFSPID).

Methods

This is a systematic review through literature databases (2015-2023). Blood immunoreactive trypsinogen (b-IRT) values, CFTR genotype, sweat chloride (SC) values, isolation of Pseudomonas aeruginosa (Pa) from respiratory samples, Lung Clearance Index (LCI) values in CFSPIDs who converted to CF (CFSPID>CF) and age at CF transition were assessed.

Results

Percentage of CFSPID>CF varies from 5.3% to 44%. Presence of one CF-causing CFTR variant in trans with a variant with variable clinical consequences (VVCC), an initial SC ≥ 40 mmol/L, an increase of SC >2.5 mmol/L/year and recurrent isolation of pseudomonas aeruginosa (Pa) from airway samples could allow identification of subjects at risk of progression to CF.

Conclusions

CFSPIDs with CF causing variant/VVCC genotype and first SC in the higher borderline range may require more frequent and prolonged clinical follow-up.

中文翻译：

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用于预测 CRMS/CFSPID 受试者囊性纤维化进展的生化和遗传工具：系统评价

目标

本研究的目的是确定被检测为囊性纤维化 (CF) 筛查阳性、不确定诊断 (CFSPID) 的个体进展为囊性纤维化 (CF) 的危险因素。

方法

这是通过文献数据库（2015-2023）进行的系统综述。血液免疫反应性胰蛋白酶原 (b-IRT) 值、CFTR基因型、汗液氯化物 (SC) 值、从呼吸道样本中分离出的铜绿假单胞菌(Pa)、转化为 CF 的 CFSPID 中的肺清除指数 (LCI) 值 (CFSPID>CF) 和评估 CF 转变时的年龄。

结果

CFSPID>CF 的百分比从 5.3% 到 44% 不等。反式中存在一种导致 CF 的 CFTR变异，且具有可变临床后果 (VVCC) 的变异，初始 SC ≥ 40 mmol/L，SC 增加 >2.5 mmol/L/年，并且反复分离铜绿假单胞菌 (Pa)从气道样本中可以识别出有进展为 CF 风险的受试者。

结论

具有 CF 引起变异/VVCC 基因型且首次 SC 处于较高临界范围的 CFSPID 可能需要更频繁和更长时间的临床随访。