METHODS: This Korean nationwide, multicenter study, conducted between January 2000 and August 2022, reviewed the medical records of pediatric patients diagnosed with PCD. Prospective studies have been added to determine whether additional genetic testing is warranted in some patients.
RESULTS: Overall, 41 patients were diagnosed with PCD in 15 medical institutions. The mean age at diagnosis was 11.8 ± 5.4 years (range: 0.5 months-18.9 years). Most patients (40/41) were born full term, 15 (36.6%) had neonatal respiratory symptoms, and 12 (29.3%) had a history of admission to the neonatal intensive care unit. The most common complaint (58.5%) was chronic nasal symptoms. Thirty-three patients were diagnosed with transmission electron microscopy (TEM) and 12 patients by genetic studies. TEM mostly identified outer dynein arm defects (alone or combined with inner dynein arm defects, n = 17). The genes with the highest mutation rates were DNAH5 (3 cases) and DNAAF1 (3 cases). Rare genotypes (RPGR, HYDIN, NME5) were found as well. Chest computed tomography revealed bronchiectasis in 33 out of 41 patients. Among them, 15 patients had a PrImary CiliAry DyskinesiA Rule score of over 5 points.
CONCLUSIONS: To our knowledge, this is the first multicenter study to report the clinical characteristics, diagnostic methods, and genotypes of PCD in Korea. These results can be used as basic data for further PCD research.
方法:这个韩国全国,多中心研究,在2000年1月至2022年8月期间进行,回顾了诊断为PCD的儿科患者的医疗记录.已经增加了前瞻性研究,以确定是否需要对某些患者进行额外的基因检测。
结果:总体而言,41例患者在15家医疗机构确诊为PCD。诊断时的平均年龄为11.8±5.4岁(范围:0.5个月-18.9岁)。大多数患者(40/41)是足月出生的,15人(36.6%)有新生儿呼吸道症状,12例(29.3%)有新生儿重症监护病房入院史.最常见的主诉(58.5%)是慢性鼻部症状。通过透射电子显微镜(TEM)诊断出33例患者,通过遗传研究诊断出12例患者。透射电镜主要确定外部动力蛋白臂缺陷(单独或与内部动力蛋白臂缺陷结合,n=17)。突变率最高的基因为DNAH5(3例)和DNAF1(3例)。稀有基因型(RPGR,HYDIN,NME5)也被发现。胸部计算机断层扫描显示41例患者中有33例支气管扩张。其中,15例患者的PromaryCiliAryDyskinesiA规则评分超过5分。
结论:据我们所知,这是第一个报告临床特征的多中心研究,诊断方法,以及韩国PCD的基因型。这些结果可作为进一步PCD研究的基础数据。