Gatt Dvir, Shaw Michelle, Kritzinger Fiona, Solomon Melinda, Dell Sharon, Ratjen Felix
Division of Respiratory Medicine, and.
Translational Medicine, Research Institute, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; and.
Ann Am Thorac Soc. 2025 Feb;22(2):208-215. doi: 10.1513/AnnalsATS.202403-230OC.
The typical symptoms of primary ciliary dyskinesia (PCD) manifest after birth and in early infancy, but diagnosis is often not confirmed during infancy. There is currently a lack of evidence in PCD regarding the impact of the age of the patient at the time of diagnosis on clinical outcomes. To determine whether early diagnosis of PCD is related to improved long-term outcomes. This was a retrospective study of patients diagnosed with PCD between 2000 and 2022. We divided our cohort into three groups according to the age at diagnosis: (1) early diagnosis (age <1 year), typical diagnosis (age 1-7 years), and late diagnosis (age 8-14 years). We compared various clinical long-term outcomes between the groups. During 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 in the late diagnosis group. Unexplained neonatal respiratory distress and organ laterality defect were more common in the early diagnosis group, with respective rates in the early, typical, and late diagnosis groups of 80%, 53%, and 61% for neonatal respiratory distress ( = 0.045) and 64%, 50%, and 18% for laterality defect ( < 0.001). At the end of the first decade of life, patients in the early and typical-age diagnosis groups had better forced expiratory volume in 1 second compared with the late diagnosis group (93.5% and 93.1% vs. 80.2%; = 0.002), but there was no significant change in the annual rate of decline between the groups when diagnosis had been confirmed. Patients diagnosed late had significantly higher rates of pulmonary exacerbations than those diagnosed at a typical age (1.95 vs. 0.75 per year; < 0.01) Late diagnosis (age ≥8 years) was associated with lower forced expiratory volume in 1 second 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.
原发性纤毛运动障碍（PCD）的典型症状在出生后及婴儿早期出现，但在婴儿期往往无法确诊。目前，PCD中缺乏关于诊断时患者年龄对临床结局影响的证据。为了确定PCD的早期诊断是否与改善长期结局相关。这是一项对2000年至2022年间诊断为PCD的患者进行的回顾性研究。我们根据诊断时的年龄将队列分为三组：（1）早期诊断（年龄<1岁）、典型诊断（年龄1 - 7岁）和晚期诊断（年龄8 - 14岁）。我们比较了各组之间的各种临床长期结局。在研究期间，110例患者纳入分析，早期诊断组41例，典型诊断组35例，晚期诊断组34例。不明原因的新生儿呼吸窘迫和器官位置异常在早期诊断组中更常见，新生儿呼吸窘迫在早期、典型和晚期诊断组中的发生率分别为80%、53%和61%（P = 0.045），位置异常的发生率分别为64%、50%和18%（P < 0.001）。在生命的第一个十年结束时，早期和典型年龄诊断组的患者1秒用力呼气量优于晚期诊断组（93.5%和93.1%对80.2%；P = 0.002），但确诊后各组之间的年下降率没有显著变化。晚期诊断的患者肺部急性加重的发生率明显高于典型年龄诊断的患者（每年1.95次对0.75次；P < 0.01）。晚期诊断（年龄≥8岁）与整个儿童期较低的1秒用力呼气量相关，尽管一旦确诊，年下降率没有差异。这些发现证明了小儿PCD延迟诊断的负面影响。
