Beucher J, Chambellan A, Segalen J, Deneuville E
Annexe pédiatrique, service de pneumologie pédiatrique, CHU hôpital Sud, 16, boulevard de Bulgarie, 35000 Rennes, France.
Rev Mal Respir. 2011 Sep;28(7):856-63. doi: 10.1016/j.rmr.2011.02.014. Epub 2011 Sep 3.
Primary ciliary dyskinesia (PCD) is an inherited disease responsible for a disruption of normal ciliary function. Its clinical presentation is usually in early childhood with pulmonary and otorhinolaryngologic symptoms. Early diagnosis is essential to avoid the development of bronchiectasis. The aim of the study was to retrospectively review the clinical features of children suspected to have PCD.
A total of 89 children had a bronchoscopy to perform a biopsy analyzed by transmission electron microscopy (TEM) in the childrens' hospital of Rennes between 2000 and 2009. PCD was diagnosed in 17 children, excluded in 51 and results were uncertain in 21 children. Mean age at diagnosis was 6.5 years. In the PCD group, a history of neonatal respiratory distress was found in 40% of cases, 82% had had bronchopneumonia, 37% sinusitis, 82% recurrent otitis and 23% situs inversus. These subjects had defects in ciliary structure, 59% in the dynein arms, 35% in the central complex and 6% having both. Nasal nitric oxide production was consistent with the results of TEM in 16 cases: five PCD, 11 without PCD. In two cases, the results were discordant.
This case series highlights the key clinical features of recurrent otitis, sinusitis, and situs inversus, especially when occurring in combination with bronchitic symptoms. Measures of nasal nitric oxide are useful for the diagnosis of PCD and in the case of high levels of NO, PCD is unlikely. Results may not be definitive and TEM analysis of biopsies is still indispensable to ensure the diagnosis and guide genetic counselling.
原发性纤毛运动障碍（PCD）是一种遗传性疾病，可导致正常纤毛功能紊乱。其临床表现通常出现在儿童早期，伴有肺部和耳鼻喉科症状。早期诊断对于避免支气管扩张的发生至关重要。本研究的目的是回顾性分析疑似患有PCD的儿童的临床特征。
2000年至2009年间，共有89名儿童在雷恩儿童医院接受了支气管镜检查，以获取用于透射电子显微镜（TEM）分析的活检样本。17名儿童被诊断为PCD，51名被排除，21名儿童的结果不确定。诊断时的平均年龄为6.5岁。在PCD组中，40%的病例有新生儿呼吸窘迫史，82%曾患支气管肺炎，37%患鼻窦炎，82%患复发性中耳炎，23%有脏器反位。这些受试者存在纤毛结构缺陷，59%的人动力蛋白臂有缺陷，35%的人中央复合体有缺陷，6%的人两者都有。16例患者的鼻一氧化氮产生情况与TEM结果一致：5例PCD患者，11例非PCD患者。2例结果不一致。
本病例系列突出了复发性中耳炎、鼻窦炎和脏器反位的关键临床特征，尤其是当这些症状与支气管炎症状同时出现时。鼻一氧化氮检测对PCD的诊断有用，而一氧化氮水平高时，PCD的可能性不大。结果可能不具有决定性，活检的TEM分析对于确保诊断和指导遗传咨询仍然不可或缺。
