原发性睫状肌运动障碍患儿诊断年龄的影响

IF 6.8 2区 医学 Q1 RESPIRATORY SYSTEM
Dvir Gatt,Michelle Shaw,Fiona Kritzinger,Melinda Solomon,Sharon Dell,Felix Ratjen
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引用次数: 0

摘要

理论依据原发性睫状肌运动障碍(PCD)的典型症状表现在出生后和婴儿早期,但在婴儿期往往无法确诊。目前还缺乏有关 PCD 诊断年龄对临床预后影响的证据。目的确定早期诊断是否与长期预后的改善有关。我们根据诊断年龄将队列分为三组。1)早期诊断(8 岁)与整个儿童期较低的 FEV1 有关,尽管一旦确诊,每年的下降率并无不同。这些发现表明,延迟诊断对小儿肺结核有负面影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The Impact of Age of Diagnosis in Children with Primary Ciliary Dyskinesia.
RATIONALE The typical symptoms for primary ciliary dyskinesia (PCD) manifest after birth and in early infancy, however diagnosis is often not confirmed during infancy. There is currently a lack of evidence in PCD regarding the impact of the age of diagnosis on clinical outcomes. OBJECTIVE To determine whether early diagnosis is related to improved long-term outcomes. METHOD This was a retrospective study of patients diagnosed with PCD between 2000 to 2022. We divided our cohort to three groups according to the age of diagnosis. 1) early diagnosis (<1 year); typical diagnosis (1-7 years) and late diagnosis (8-14 years). We compared various clinical long-term outcomes between the groups. RESULTS Over the study period, 110 patients were included in the analysis, with 41 patients in the early diagnosis group, 35 in the typical diagnosis group and 34 patients in the late diagnosis group. The presence of unexplained neonatal respiratory distress (NRDS) and organ laterality defect were higher in the early diagnosis group with rates between the early, typical, and late diagnosis groups for NRDS (80% vs 53% vs 61%, p=0.045) and laterality defect (64% vs 50% vs 18%, p<0.001). At the end of the first decade of life, patients in the early diagnosis and the typical age of diagnosis had better forced expiratory volume in 1 second (FEV1), compared to the late diagnosis group (93.5% and 93.1% vs 80.2%, P=0.002), respectively, but there was no significant change in the annual rate of decline between the groups once diagnosis was confirmed. Patient diagnosed late had significantly higher rates of pulmonary exacerbations (Pex) compared to typical age (1.95 vs 0.75 Pex/year, p<0.01) Conclusion: Late diagnosis (>8 years) was associated with lower FEV1 throughout childhood, although once diagnosed, the annual rate of decline was not different. These findings demonstrate the negative effect of delayed diagnosis in pediatric PCD.
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来源期刊
Annals of the American Thoracic Society
Annals of the American Thoracic Society Medicine-Pulmonary and Respiratory Medicine
CiteScore
9.30
自引率
3.60%
发文量
0
期刊介绍: The Annals of the American Thoracic Society (AnnalsATS) is the official international online journal of the American Thoracic Society. Formerly known as PATS, it provides comprehensive and authoritative coverage of a wide range of topics in adult and pediatric pulmonary medicine, respiratory sleep medicine, and adult medical critical care. As a leading journal in its field, AnnalsATS offers up-to-date and reliable information that is directly applicable to clinical practice. It serves as a valuable resource for clinical specialists, supporting their formative and continuing education. Additionally, the journal is committed to promoting public health by publishing research and articles that contribute to the advancement of knowledge in these fields.
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