Department of Pediatric Pulmonology, University Hospital Leuven, Herestraat 49, 3000, Leuven, Belgium.
Eur J Pediatr. 2013 Feb;172(2):151-62. doi: 10.1007/s00431-012-1785-6. Epub 2012 Jul 10.
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease, caused by specific primary structural and/or functional abnormalities of the motile cilia, in contrast with the transitory abnormalities seen in secondary ciliary dyskinesia. Disease-causing mutations in at least 16 genes have already been identified. The true incidence of PCD may be higher than currently reported, because the diagnosis is challenging and often missed. For the confirmation of PCD, both ciliary motility as well as ciliary ultrastructure must be evaluated. An early and adequate diagnosis and therapy can theoretically prevent bronchiectasis. Measurement of nasal nitric oxide has some value as a screening test but cannot be performed in young children. In the respiratory tract epithelium, impaired mucociliary clearance leads to chronic and/or recurrent upper and lower respiratory tract infections. In up to 75 % of the patients, respiratory manifestations start in the newborn period, although the diagnosis is often missed at that time. During embryogenesis, nodal cilia, which are motile cilia, determine the correct lateralization of the organs. Dysfunction of these cilia leads to random lateralization and thus situs inversus in approximately 50 % of the patients with PCD. The tail of a spermatozoon has a structure similar to that of a motile cilium. Consequently, male infertility due to immotile spermatozoa is often part of the characteristics of PCD. Given the heterogeneity and the rarity of the disorder, therapy is not evidence-based. Many treatment schedules are proposed in analogy with the treatment for cystic fibrosis.
Respiratory infections, situs inversus and male infertility are typical manifestations of PCD, a rare autosomal recessive disorder.
原发性纤毛运动障碍（PCD）是一种罕见的常染色体隐性遗传病，由运动纤毛的特定原发性结构和/或功能异常引起，与继发性纤毛运动障碍中观察到的暂时性异常不同。至少已经确定了 16 个基因的致病突变。PCD 的真实发病率可能高于目前报道的发病率，因为诊断具有挑战性且经常被遗漏。为了确认 PCD，必须评估纤毛运动和纤毛超微结构。理论上，早期和充分的诊断和治疗可以预防支气管扩张。鼻一氧化氮测量具有一定的筛查价值，但不能在幼儿中进行。在上皮细胞中，纤毛粘液清除功能受损导致慢性和/或复发性上呼吸道和下呼吸道感染。在多达 75%的患者中，呼吸道表现始于新生儿期，尽管当时经常被漏诊。在胚胎发生过程中，节点纤毛（运动纤毛）决定了器官的正确侧化。这些纤毛的功能障碍导致随机侧化，因此大约 50%的 PCD 患者出现 situs inversus（内脏逆位）。精子的尾部具有与运动纤毛相似的结构。因此，由于不动精子导致的男性不育症通常是 PCD 的特征之一。鉴于该病的异质性和罕见性，治疗尚无循证依据。许多治疗方案是根据囊性纤维化的治疗方法提出的。
呼吸道感染、内脏逆位和男性不育是 PCD 的典型表现，PCD 是一种罕见的常染色体隐性遗传病。
