[Clinical characteristics of primary ciliary dyskinesia in children].
[Clinical characteristics of primary ciliary dyskinesia in children].
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发表时间：
2008-08
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通讯作者：
Bao-Ping Xu;K. Shen;Ying-hui Hu;Xue-li Feng;Hui‐min Li;Z. Lang
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作者：
Bao-Ping Xu;K. Shen;Ying-hui Hu;Xue-li Feng;Hui‐min Li;Z. Lang
目的原发性睫状体运动障碍（primaryciliarydyskinesia，PCD）是一组遗传性疾病，正确的诊断和恰当的临床护理，预防和治疗并发症，可维持患者的生活质量和正常寿命。PCD的诊断往往被延误，因为它经常被误诊为支气管炎，鼻窦炎和中耳炎。本研究旨在分析和总结儿童PCD的临床特点，探讨其诊断和鉴别诊断方法。方法选择1990 - 2006年首都医科大学附属北京儿童医院住院部住院的患儿。对疑诊PCD患儿行支气管镜下取支气管图尼卡粘膜和/或鼻粘膜。电镜观察睫状体超微结构。分析了儿童PCD的临床特点、诊断和鉴别诊断程序。结果26例PCD患儿中10例（38.5%）为Kartagener综合征。Kartagener综合征患儿均为镜像心，心脏结构正常，内脏逆位。10例Kartagener综合征患儿中有8例支气管镜检查显示支气管移位。二十六个孩子来自二十五个家庭。虽然4名先证者的兄弟姐妹也有慢性咳嗽伴痰、流鼻涕和反复呼吸道感染的症状，但只有1名男孩和他的妹妹同时被诊断为Kartagener综合征。他们的父母和其他家庭成员都很健康。26例患者中，11例为男孩，15例为女孩。诊断时的中位年龄为8.7岁。发病年龄为产后第2天~ 15岁，中位年龄3岁。确诊前病程11天~ 12年（中位3.5年）。所有患儿均有咳嗽症状，其中排痰性咳嗽24例。7例有杵状指。动力蛋白臂缺损10例，其中6例动力蛋白臂完全缺失，4例动力蛋白臂数目减少。微管排列紊乱8例。1例Kartagener综合征患儿纤毛结构正常。影像学检查分别发现8例、6例和7例患者出现支气管扩张、实变和肺纹理增多。20例患者患有鼻窦炎。16名儿童中有9名在肺功能检查中出现PEF、FEV 1和/或FEF 25 - 75降低。从6例患儿的痰和/或支气管肺泡灌洗液中获得的15份培养样本中，有8株铜绿假单胞菌、5株肺炎链球菌和2株白色念珠菌阳性。在1例受试者中，在同一样本中发现1种以上微生物。4例中3例听力下降，5例中3例胃食管反流。结论PCD可发生于新生儿至青春期，通常有慢性病程。儿童PCD的常见症状是排痰性咳嗽和明显的生长发育迟缓。与PCD相关的最常见的超微结构异常是动力蛋白臂的完全缺失、动力蛋白臂数量减少和微管排列紊乱。有些患者的纤毛结构正常。支气管扩张、实变及鼻窦炎多见。铜绿假单胞菌和肺炎链球菌是PCD患儿痰液和/或支气管肺泡灌洗液中常见的两种细菌。有些病人有混合感染。PCD儿童听力损失和胃食管反流的比例很高。
OBJECTIVE Although primary ciliary dyskinesia (PCD) is a group of inherited diseases, accurate diagnosis and appropriate clinical care to prevent and treat the complications could maintain patients' quality of life and normal life span. The diagnosis of PCD may often be delayed because it is frequently misdiagnosed as bronchitis, sinusitis and otitis. This study aimed to analyze and summarize the clinical features of PCD and explore diagnostic and differential diagnostic procedures in children. METHODS Patients were all chosen from the inpatient department of Beijing Children's Hospital, Capital Medical University between 1990 - 2006. The tunica mucosa bronchiorum and/or nasal mucous membrane were gained through bronchoscope in children suspected to have PCD. The ciliary ultrastructures were analyzed through the electron microscope. The clinical features and procedures of the diagnosis and differential diagnosis in children with PCD were analyzed. RESULTS There were totally 26 children diagnosed as PCD with 10 (38.5%) Kartagener syndrome. All Kartagener syndrome children had mirror image dextrocardia with normal cardiac structure and situs inversus viscerum. The bronchoscopy performed in eight of 10 Kartagener syndrome children showed bronchus transposition. Twenty-six children came from twenty-five families. Although the siblings of four probands also had the symptoms of chronic cough with sputum, running nose and recurrent respiratory infections, only a boy and his sister were diagnosed as Kartagener syndrome simultaneously. Their parents and the other family members were healthy. Of the 26 patients, 11 were boys and 15 were girls. The median age at diagnosis was 8.7 years. The age of onset was between the second day after delivery and fifteen years old, median age was 3 years. The course of disease before diagnosis was eleven days to twelve years (median 3.5 years). All the children had the symptom of cough, 24 of which had productive cough. Seven cases were found to have clubbing fingers. Dynein arm defect was found in 10 children, 6 of them had total absence of dynein arms and 4 had decreased dynein arm numbers. Microtube derangements were found in 8 children. One Kartagener syndrome child had a normal cilia structure. Bronchiectasis, consolidation and increased lung markings were found in 8, 6 and 7 patients separately on the radiographic study. Twenty patients had sinusitis. Nine of sixteen children had decreased PEF, FEV1 and/or FEF 25 - 75 on the pulmonary function test. Fifteen culture samples obtained from 6 children's sputum and/or bronchoalveolar lavage fluid were positive for 8 strains of Pseudomonas aeruginosa, 5 strains of Streptococcus pneumoniae and 2 strains of Candida albicans. In 1 subject more than one organism were found in the same sample. Hearing lost and gastroesophageal reflux were detected in 3 of 4 and 3 of 5 examined children respectively. CONCLUSIONS The onset of PCD can occur from neonate to adolescence and usually has a chronic course. The common symptom of pediatric PCD was productive cough and significant growth retardation. The most common ultrastructural abnormalities associated with PCD were the total absence of dynein arms, decreased dynein arm numbers and microtube derangement. Some patients have normal ciliary structures. Bronchiectasis, consolidation and sinusitis were usually seen on the radiography. Pseudomonas aeruginosa and Streptococcus pneumoniae were the two common bacterial organisms obtained from sputum and/or bronchoalveolar lavage fluid of PCD children. Some patients have mixed infections. PCD children have high percentages of hearing lost and gastroesophageal reflux.