Primary Ciliary Dyskinesia

Abstract

Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure, function, and biogenesis leading to chronic infections of the respiratory tract, fertility problems and disorders of organ laterality. The diagnosis can be challenging, using traditional tools such as characteristic clinical features, ciliary functional and ultra-structural defects; newer screening tools such as nasal nitric oxide levels and genetic testing add to the diagnostic algorithm. There are thirty-two known PCD causing genes, and in the future, comprehensive genetic testing may screen young infants prior to developing symptoms thus improving survival. Therapies include surveillance of pulmonary function and microbiology, in addition to airway clearance, antibiotics and ideally, early referral to bronchiectasis centers. As with CF, standardized care at specialized centers using a multidisciplinary approach likely improves outcomes. In conjunction with the CF foundation, the PCD foundation, and with lead investigators and clinicians, is developing a network of PCD clinical centers to coordinate the effort in North America and Europe. As the network grows, care and knowledge will improve.

Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis

“…Table 1 lists the included studies and describes their characteristics. The 51 articles [2, and one conference abstract [91] included, described a total of 1970 patients, with a mean number of 38 patients per study (range 10-168). Nearly half of the studies originated from paediatric clinics or peadiatric pulmonology departments, 11 came from ENT, 4 from adult pulmonology and 12 from other departments, such as diagnostic laboratories, radiology and pathology departments (Table 2).…”

“…[1] Productive cough, rhinitis and recurrent infections of the upper and lower respiratory tract have been described as leading symptoms. [2,3] Manifestations from other systems have also been reported and about half of the patients have been described to present with situs inversus. [4] In addition, many men with PCD have immobile spermatozoa or dysfunction of cilia in the epididymal duct leading to infertility.…”

Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations

“…Other causes include deletion of inner dynein arms and microtubule malposition [11]. Defects of the ciliary ultrastructure composed of dynein arms could affect the movement of cilia, and thus cause cough, pneumonia, infertility, and even anosphrasia and deafness [12][13][14][15][16]. ODAs are composed of protein products encoded by multiple genes, among which the DNAH5 gene has 79 exons [17] that encode the heavy chain of ODA.…”

Current Trends in the Diagnosis of Primary Ciliary Dyskinesia

“…The classic clinical symptoms of PCD include a history of neonatal respiratory syndrome, chronic upper and lower airway disease, recurrent otitis media, and bronchiectasis [3]. Situs inversus is observed in approximately one half of all PCD patients.…”