Hosie Patrick H, Fitzgerald Dominic A, Jaffe Adam, Birman Catherine S, Rutland Jonathan, Morgan Lucy C
Discipline of Paediatrics, School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.
Department of Respiratory Medicine, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
J Paediatr Child Health. 2015 Jul;51(7):722-6. doi: 10.1111/jpc.12791. Epub 2014 Dec 15.
Primary ciliary dyskinesia (PCD) is a rare (1:15,000) condition resulting in recurrent suppurative respiratory tract infections, progressive lung damage and hearing impairment. As the diagnosis is often delayed for years, the purpose of this study was to review the presenting features of children with PCD attending Australia's initial diagnostic PCD service over a 30-year period.
A retrospective review of the symptoms of children diagnosed with PCD at Concord Hospital between 1982 and 2012 was undertaken.
One thousand thirty-seven paediatric patients were referred for assessment and underwent nasal ciliary brushing. Eighty-four (8.1%) had PCD based on microscopic analysis of nasal cilia. This included 81 with ciliary ultrastructural abnormalities demonstrated on electron microscopy and 3 with a suggestive phenotype, reduced ciliary beat frequency and a family history of PCD. The median age at diagnosis was 6.4 years (range 0.1 to 18.2 years). Forty-six per cent had situs abnormalities and 31% had a family member with PCD. Recurrent cough (81%), rhinosinusitis (71%), recurrent otitis media (49%) and neonatal respiratory distress (57%) were reported. Bronchiectasis at presentation was documented in 32%. Situs abnormalities and neonatal respiratory distress were present together in 26%.
PCD remains under-recognised by health-care workers. The combination of neonatal respiratory distress, chronic suppurative cough and rhinosinusitis was the most common documented symptom cluster at presentation in cases of PCD. A heightened awareness of the clinical features of the disease may help to lower the age at diagnosis, facilitate appropriate treatment and improve long-term outcomes.
原发性纤毛运动障碍（PCD）是一种罕见疾病（发病率为1:15,000），可导致反复化脓性呼吸道感染、进行性肺损伤和听力障碍。由于诊断往往延迟数年，本研究旨在回顾30年间在澳大利亚首个PCD诊断服务机构就诊的PCD患儿的临床表现。
对1982年至2012年间在康科德医院被诊断为PCD的患儿症状进行回顾性分析。
1037例儿科患者被转诊进行评估并接受鼻纤毛刷检。根据鼻纤毛的显微镜分析，84例（8.1%）患有PCD。其中81例在电子显微镜下显示纤毛超微结构异常，3例具有提示性表型、纤毛摆动频率降低且有PCD家族史。诊断时的中位年龄为6.4岁（范围0.1至18.2岁）。46%有内脏反位异常，31%有家庭成员患有PCD。报告有反复咳嗽（81%）、鼻窦炎（71%）、反复中耳炎（49%）和新生儿呼吸窘迫（57%）。初诊时记录有支气管扩张的占32%。内脏反位异常和新生儿呼吸窘迫同时存在的占26%。
医护人员对PCD的认识仍然不足。新生儿呼吸窘迫、慢性化脓性咳嗽和鼻窦炎的组合是PCD病例初诊时最常见的记录症状群。提高对该疾病临床特征的认识可能有助于降低诊断年龄、促进适当治疗并改善长期预后。
