Biochemical and genetic tools to predict the progression to Cystic Fibrosis in CRMS/CFSPID subjects: A systematic review

IF 4.7 3区医学 Q1 PEDIATRICS

Paediatric Respiratory Reviews Pub Date : 2024-09-01 DOI:10.1016/j.prrv.2024.01.001

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引用次数: 0

Abstract

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.

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预测 CRMS/CFSPID 受试者发展为囊性纤维化的生化和遗传工具：系统综述

本研究旨在确定被检测为 CF 筛查阳性、诊断不确定（CFSPID）的个体发展为囊性纤维化（CF）的风险因素。评估了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）、转为CF（CFSPID>CF）的CFSPID的肺通畅指数（LCI）值和CF转归年龄。结果CFSPID>CF的比例从5.3%到44%不等。结果CFSPID>CF的比例从5.3%到44%不等。在与临床后果可变的变体（VVCC）、初始SC≥40 mmol/L、SC>2.5 mmol/L/年的增长以及从气道样本中反复分离出铜绿假单胞菌（Pa）的反式中存在一个CF致病CFTR变体，可以识别有进展为CF风险的受试者。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Paediatric Respiratory Reviews 医学-呼吸系统

CiteScore

12.50

自引率

0.00%

发文量

审稿时长

23 days

期刊介绍： Paediatric Respiratory Reviews offers authors the opportunity to submit their own editorials, educational reviews and short communications on topics relevant to paediatric respiratory medicine. These peer reviewed contributions will complement the commissioned reviews which will continue to form an integral part of the journal. Subjects covered include: • Epidemiology • Immunology and cell biology • Physiology • Occupational disorders • The role of allergens and pollutants A particular emphasis is given to the recommendation of "best practice" for primary care physicians and paediatricians. Paediatric Respiratory Reviews is aimed at general paediatricians but it should also be read by specialist paediatric physicians and nurses, respiratory physicians and general practitioners. It is a journal for those who are busy and do not have time to read systematically through literature, but who need to stay up to date in the field of paediatric respiratory and sleep medicine.