Primary ciliary dyskinesia - Diagnostic and phenotypic features
Primary ciliary dyskinesia - Diagnostic and phenotypic features
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DOI：
10.1164/rccm.200303-365oc
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发表时间：
2004-02-15
影响因子：
24.7
通讯作者：
Knowles, MR
中科院分区：
文献类型：
--
作者：
Noone, PG;Leigh, MW;Knowles, MR
原发性纤毛运动障碍（PCD）是一种以纤毛结构/功能异常为特征的遗传性疾病。我们假设，主要的临床和生物表型标志物的疾病可以通过研究一个队列的受试者怀疑有PCD进行评估。在110例受试者中，78例受试者使用相容的临床特征结合睫状体超微结构和功能测试诊断为PCD。慢性鼻炎/鼻窦炎（n = 78; 100%）、复发性中耳炎（n = 74; 95%）、新生儿呼吸道症状（n = 57; 73%）和内脏逆位（n = 43; 55%）是该疾病的强表型标志物。粘液样铜绿假单胞菌（n = 12; 15%）和非结核分枝杆菌（n = 8; 10%）存在于老年（> 30岁）PCD患者中。所有受试者都有睫状结构缺陷，66%在动力蛋白外臂。鼻一氧化氮的产生在PCD中非常低（nl/分钟; 19 +/- 17 vs. 376 +/- 124在正常对照受试者）。严格的临床和纤毛表型和鼻一氧化氮的措施是有用的PCD的诊断。提高对PCD临床表现和诊断标准的认识将有助于更好地诊断和护理这种孤儿疾病。
Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormalities in ciliary structure/function. We hypothesized that the major clinical and biologic phenotypic markers of the disease could be evaluated by studying a cohort of subjects suspected of having PCD. Of 110 subjects evaluated, PCD was diagnosed in 78 subjects using a combination of compatible clinical features coupled with tests of ciliary ultrastructure and function. Chronic rhinitis/ sinusitis (n = 78; 100%), recurrent otitis media (n = 74; 95%), neonatal respiratory symptoms (n = 57; 73%), and situs inversus (n = 43; 55%) are strong phenotypic markers of the disease. Mucoid Pseudomonas aeruginosa (n = 12; 15%) and nontuberculous mycobacteria (n = 8; 10%) were present in older (> 30 years) patients with PCD. All subjects had defects in ciliary structure, 66% in the outer dynein arm. Nasal nitric oxide production was very low in PCD (nl/minute; 19 +/- 17 vs. 376 +/- 124 in normal control subjects). Rigorous clinical and ciliary phenotyping and measures of nasal nitric oxide are useful for the diagnosis of PCD. An increased awareness of the clinical presentation and diagnostic criteria for PCD will help lead to better diagnosis and care for this orphan disease.