在恢复患有 "轻度疾病 "的儿童和儿童先天性心脏病 CFTR 方面取得的进展。

IF 2.7 3区医学 Q1 PEDIATRICS

Pediatric Pulmonology Pub Date : 2025-03-01 Epub Date: 2024-11-11 DOI:10.1002/ppul.27359

Malena Cohen-Cymberknoh

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引用次数: 0

摘要

囊性纤维化（CF）是一种进行性遗传疾病，肺部疾病是发病和死亡的主要原因。虽然治疗方法的进步延长了患者的预期寿命，但肺功能仍会随着时间的推移而下降。早期炎症和慢性感染，尤其是假单胞菌感染，会加重病情。目前的治疗侧重于营养、气道清理和感染控制，但 CFTR 调节剂可直接针对基因缺陷，改善肺功能并减少肺部恶化。早期使用 CFTR 调节剂可以改变疾病的进程。

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Advances in the restoration of CFTR in children and pwCF with "mild disease".

Cystic fibrosis (CF) is a progressive genetic disorder, with lung disease being the main cause of morbidity and mortality. While advances in treatment have extended life expectancy, lung function still declines over time. Early inflammation and chronic infection, particularly with pseudomonas, worsen outcomes. Current management focuses on nutrition, airway clearance and infection control, but CFTR modulators directly target the genetic defect, improving lung function and reducing pulmonary exacerbations. Early use of CFTR modulators can alter the course of the disease.

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来源期刊

Pediatric Pulmonology 医学-呼吸系统

CiteScore

6.00

自引率

12.90%

发文量

468

审稿时长

3-8 weeks

期刊介绍： Pediatric Pulmonology (PPUL) is the foremost global journal studying the respiratory system in disease and in health as it develops from intrauterine life though adolescence to adulthood. Combining explicit and informative analysis of clinical as well as basic scientific research, PPUL provides a look at the many facets of respiratory system disorders in infants and children, ranging from pathological anatomy, developmental issues, and pathophysiology to infectious disease, asthma, cystic fibrosis, and airborne toxins. Focused attention is given to the reporting of diagnostic and therapeutic methods for neonates, preschool children, and adolescents, the enduring effects of childhood respiratory diseases, and newly described infectious diseases. PPUL concentrates on subject matters of crucial interest to specialists preparing for the Pediatric Subspecialty Examinations in the United States and other countries. With its attentive coverage and extensive clinical data, this journal is a principle source for pediatricians in practice and in training and a must have for all pediatric pulmonologists.