Yiallouros Panayiotis K, Kouis Panayiotis, Middleton Nicos, Nearchou Marianna, Adamidi Tonia, Georgiou Andreas, Eleftheriou Adonis, Ioannou Phivos, Hadjisavvas Andreas, Kyriacou Kyriacos
Cyprus International Institute for Environmental & Public Health in Association with Harvard School of Public Health, Cyprus University of Technology, Limassol, Cyprus; Department of Pediatrics, Hospital "Archbishop Makarios III", Nicosia, Cyprus.
Cyprus International Institute for Environmental & Public Health in Association with Harvard School of Public Health, Cyprus University of Technology, Limassol, Cyprus.
Respir Med. 2015 Mar;109(3):347-56. doi: 10.1016/j.rmed.2015.01.015. Epub 2015 Jan 31.
Despite the manifestations of primary ciliary dyskinesia (PCD) in early life, the diagnosis is often much delayed. Since 1998 in Cyprus, we have established the only national diagnostic and clinical referral center for PCD.
To review the phenotypic features at presentation of PCD patients in Cyprus in relation to age at diagnosis, with emphasis on previously lobectomised patients.
The medical records of the diagnosed PCD patients were retrospectively reviewed to obtain clinical data on presentation.
Thirty patients, aged 13.9 years (range 0.1, 58.4 years), were diagnosed with PCD. Twelve of them presented after the age of 18. The most common manifestations were chronic cough (100%), chronic rhinorrhea (96.7%), sputum production (92.9%), laterality defects (63.3%), a history of pneumonia (53.3%) and neonatal respiratory distress (50%). A history of lobectomy in the past was recorded in 16.7% (5 patients). Patients who presented in adulthood had significantly higher frequency of lobectomy (41.7% vs 0%, p-value = 0.006) and had more frequently low FEV1 (58.3% vs 0%, p-value = 0.015) than those who presented before. Serial measurements of FEV1 and FVC indicated significantly lower intercepts in lobectomised compared to the adult non-lobectomised patients both in terms of FEV1 (-4.90 vs -1.80, p-value = 0.022) and FVC (-5.43 vs -1.91, p-value = 0.029) z-score levels. Change in FEV1 and FVC across time was not statistically significant in either group.
PCD often remains undiagnosed up to adulthood accompanied by appearance of advanced lung disease. Performance of lobectomies seems to be a poor prognostic factor for PCD in adulthood.
尽管原发性纤毛运动障碍（PCD）在生命早期就有表现，但诊断往往会延迟很久。自1998年起在塞浦路斯，我们建立了唯一的全国性PCD诊断及临床转诊中心。
回顾塞浦路斯PCD患者就诊时的表型特征与诊断年龄的关系，重点关注既往接受过肺叶切除术的患者。
对已确诊的PCD患者的病历进行回顾性分析，以获取就诊时的临床资料。
30例患者被诊断为PCD，年龄为13.9岁（范围0.1至58.4岁）。其中12例在18岁以后就诊。最常见的表现为慢性咳嗽（100%）、慢性鼻溢（96.7%）、咳痰（92.9%）、左右侧缺陷（63.3%）、肺炎病史（53.3%）和新生儿呼吸窘迫（50%）。16.7%（5例）有既往肺叶切除术史。成年后就诊的患者肺叶切除术的发生率显著更高（41.7%对0%，p值 = 0.006），且FEV1降低的频率也更高（58.3%对0%，p值 = 0.015）。与未接受肺叶切除术的成年患者相比，接受肺叶切除术患者的FEV1和FVC的系列测量结果显示，在FEV1（-4.90对-1.80，p值 = 0.022）和FVC（-5.43对-1.91，p值 = 0.029）的z评分水平上，截距显著更低。两组中FEV1和FVC随时间的变化均无统计学意义。
PCD在成年前常未被诊断，同时伴有晚期肺部疾病的出现。肺叶切除术似乎是PCD成年患者预后不良的一个因素。
