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Abstract：
BACKGROUND: Primary ciliary dyskinesia (PCD, MIM 244400) is an inherited ciliopathy disorder characterized by recurrent sinopulmonary infections, subfertility, and laterality defects. The true incidence of PCD in Saudi Arabia is not known, but it is likely underdiagnosed due to the high prevalence of consanguineous marriages. In this study, we aim to study the clinical and genetic characteristics of PCD patients in the southwestern region of Saudi Arabia to provide guidance to clinicians and researchers studying PCD.
METHODS: This was a cross-sectional study conducted between 2019 and 2023 in Abha Maternity and Children\'s Hospital. Twenty-eight patients with clinically diagnosed PCD were recruited. The diagnosis of PCD was confirmed via whole-exome sequencing.
RESULTS: A total of 28 patients from 20 families were identified and recruited for this study. The median age of patients was 7.5 years (IQR = 3, 13 years). The people of different sexes were evenly distributed, and 18 patients (64%) had neonatal respiratory distress (NRD). The median age of diagnosis was 5.5 years (IQR = 2, 11 years), while the age when the first symptoms appeared was 3 months old (IQR = 1, 6 months). The prevalence of a chronic wet cough, chronic rhinosinusitis, ear infections were 100% (n = 28), 78.6% (n = 22), and 67.9% (19), respectively. The most common gene in our study was DNAH5, which represented 17.9% (five out of twenty-eight) of the cases. Furthermore, the remaining pathogenic variants included: 14.3% with RSPH9 in four individuals (three families), 14.3% with DNAI2 in four individuals (two families), and 10.7% with LRRC56 in three individuals (one family). The most common findings on the chest CT scans were consolidation (seen in all patients), mucus plugging (seen in 95%), and bronchiectasis (seen in 77%). In the patients with bronchiectasis, the most commonly affected lobes were the right lower lobe (88%) and left lower lobe (76%). The patients with PCD and situs inversus were more likely to experience NRD than the patients with PCD and situs solitus. The median PICADAR score in the patients with PCD and situs inversus (median: 11.5; Q1: 10-Q3: 12.5) was significantly higher compared to those with PCD and situs solitus (median: 7.5; Q1: 5.8-Q3: 8) (U = 10.5; p < 0.001).
CONCLUSIONS: This study provides preliminary data on the clinical and genetic characteristics of PCD patients in the southwestern region of Saudi Arabia. We found that DNAH5 and RSPH9 genes were the most common genes among the studied population. Furthermore, PCD should be considered for each child with early NRD and laterality defects, and further confirmatory tests are recommended. These findings also highlight the need for greater awareness of the disease in daily clinical practice to facilitate early diagnosis and avoid irreversible lung damage.
METHODS: This was a cross-sectional study conducted between 2019 and 2023 in Abha Maternity and Children\'s Hospital. Twenty-eight patients with clinically diagnosed PCD were recruited. The diagnosis of PCD was confirmed via whole-exome sequencing.
RESULTS: A total of 28 patients from 20 families were identified and recruited for this study. The median age of patients was 7.5 years (IQR = 3, 13 years). The people of different sexes were evenly distributed, and 18 patients (64%) had neonatal respiratory distress (NRD). The median age of diagnosis was 5.5 years (IQR = 2, 11 years), while the age when the first symptoms appeared was 3 months old (IQR = 1, 6 months). The prevalence of a chronic wet cough, chronic rhinosinusitis, ear infections were 100% (n = 28), 78.6% (n = 22), and 67.9% (19), respectively. The most common gene in our study was DNAH5, which represented 17.9% (five out of twenty-eight) of the cases. Furthermore, the remaining pathogenic variants included: 14.3% with RSPH9 in four individuals (three families), 14.3% with DNAI2 in four individuals (two families), and 10.7% with LRRC56 in three individuals (one family). The most common findings on the chest CT scans were consolidation (seen in all patients), mucus plugging (seen in 95%), and bronchiectasis (seen in 77%). In the patients with bronchiectasis, the most commonly affected lobes were the right lower lobe (88%) and left lower lobe (76%). The patients with PCD and situs inversus were more likely to experience NRD than the patients with PCD and situs solitus. The median PICADAR score in the patients with PCD and situs inversus (median: 11.5; Q1: 10-Q3: 12.5) was significantly higher compared to those with PCD and situs solitus (median: 7.5; Q1: 5.8-Q3: 8) (U = 10.5; p < 0.001).
CONCLUSIONS: This study provides preliminary data on the clinical and genetic characteristics of PCD patients in the southwestern region of Saudi Arabia. We found that DNAH5 and RSPH9 genes were the most common genes among the studied population. Furthermore, PCD should be considered for each child with early NRD and laterality defects, and further confirmatory tests are recommended. These findings also highlight the need for greater awareness of the disease in daily clinical practice to facilitate early diagnosis and avoid irreversible lung damage.
摘要：
背景：原发性纤毛运动障碍（PCD，MIM244400）是一种遗传性纤毛病，其特征是复发性鼻肺感染，不孕不育,和侧向缺陷。沙特阿拉伯PCD的真实发病率尚不清楚，但是由于近亲婚姻的患病率很高，因此可能被诊断不足。在这项研究中,我们旨在研究沙特阿拉伯西南地区PCD患者的临床和遗传特征,为临床医生和研究人员提供指导.
方法：这是2019年至2023年在Abha妇幼医院进行的一项横断面研究。招募了28名临床诊断为PCD的患者。通过全外显子组测序证实PCD的诊断。
结果：本研究确定并招募了来自20个家庭的28名患者。患者的中位年龄为7.5岁（IQR=3，13岁）。不同性别的人分布均匀，18例（64％）有新生儿呼吸窘迫（NRD）。诊断年龄中位数为5.5岁（IQR=2，11岁），而首次出现症状的年龄为3个月（IQR=1、6个月）。慢性湿咳的患病率，慢性鼻-鼻窦炎,耳部感染为100%（n=28），78.6%（n=22），和67.9%（19），分别。我们研究中最常见的基因是DNAH5，占病例的17.9％（28个中的5个）。此外，其余的致病变异包括:14.3%的RSPH9在四个个体(三个家庭)中，在四个个体（两个家庭）中具有DNAI2的14.3％，在三个个体(一个家庭)中，LRRC56占10.7%。胸部CT扫描最常见的发现是巩固（在所有患者中都见过），粘液堵塞（见95%），和支气管扩张（77％可见）。在支气管扩张患者中，最常见的影响的叶是右下叶（88％）和左下叶（76％）。PCD和反位患者比PCD和反位患者更容易发生NRD。PCD和内位患者的PICADAR评分中位数（中位数：11.5；Q1：10-Q3：12.5）明显高于PCD和内位患者（中位数：7.5；Q1：5.8-Q3：8）（U=10.5；p<0.001）。
结论：本研究提供了沙特阿拉伯西南地区PCD患者的临床和遗传特征的初步数据。我们发现DNAH5和RSPH9基因是研究人群中最常见的基因。此外，对于每个有早期NRD和侧向性缺陷的儿童，应考虑PCD，建议进行进一步的验证性试验。这些发现还强调了在日常临床实践中需要提高对疾病的认识，以促进早期诊断并避免不可逆转的肺损伤。
方法：这是2019年至2023年在Abha妇幼医院进行的一项横断面研究。招募了28名临床诊断为PCD的患者。通过全外显子组测序证实PCD的诊断。
结果：本研究确定并招募了来自20个家庭的28名患者。患者的中位年龄为7.5岁（IQR=3，13岁）。不同性别的人分布均匀，18例（64％）有新生儿呼吸窘迫（NRD）。诊断年龄中位数为5.5岁（IQR=2，11岁），而首次出现症状的年龄为3个月（IQR=1、6个月）。慢性湿咳的患病率，慢性鼻-鼻窦炎,耳部感染为100%（n=28），78.6%（n=22），和67.9%（19），分别。我们研究中最常见的基因是DNAH5，占病例的17.9％（28个中的5个）。此外，其余的致病变异包括:14.3%的RSPH9在四个个体(三个家庭)中，在四个个体（两个家庭）中具有DNAI2的14.3％，在三个个体(一个家庭)中，LRRC56占10.7%。胸部CT扫描最常见的发现是巩固（在所有患者中都见过），粘液堵塞（见95%），和支气管扩张（77％可见）。在支气管扩张患者中，最常见的影响的叶是右下叶（88％）和左下叶（76％）。PCD和反位患者比PCD和反位患者更容易发生NRD。PCD和内位患者的PICADAR评分中位数（中位数：11.5；Q1：10-Q3：12.5）明显高于PCD和内位患者（中位数：7.5；Q1：5.8-Q3：8）（U=10.5；p<0.001）。
结论：本研究提供了沙特阿拉伯西南地区PCD患者的临床和遗传特征的初步数据。我们发现DNAH5和RSPH9基因是研究人群中最常见的基因。此外，对于每个有早期NRD和侧向性缺陷的儿童，应考虑PCD，建议进行进一步的验证性试验。这些发现还强调了在日常临床实践中需要提高对疾病的认识，以促进早期诊断并避免不可逆转的肺损伤。
