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

IF 5.4 3区材料科学 Q2 CHEMISTRY, PHYSICAL ACS Applied Energy Materials Pub Date : 2024-09-01 DOI:10.1016/j.prrv.2024.01.001

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引用次数: 0

摘要

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。

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

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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来源期刊

ACS Applied Energy Materials Materials Science-Materials Chemistry

CiteScore

10.30

自引率

6.20%

发文量

1368

期刊介绍： ACS Applied Energy Materials is an interdisciplinary journal publishing original research covering all aspects of materials, engineering, chemistry, physics and biology relevant to energy conversion and storage. The journal is devoted to reports of new and original experimental and theoretical research of an applied nature that integrate knowledge in the areas of materials, engineering, physics, bioscience, and chemistry into important energy applications.