Clinical care for primary ciliary dyskinesia: current challenges and future directions

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges in diagnosing PCD include lack of disease-specific symptoms and absence of a single, "gold standard", diagnostic test. Management of patients is currently not based on high-level evidence because research findings are mostly derived from small observational studies with limited follow-up period. In this review, we provide a critical overview of the available literature on clinical care for PCD patients, including recent advances. We identify barriers to PCD research and make suggestions for overcoming challenges.

The Zebrafish Kupffer’s Vesicle: A Special Organ in a Model Organism to Study Human Diseases

“…Primary ciliary dyskinesia (PCD) is a rare congenital and heterogeneous disorder (OMIM: 244400) with an estimated prevalence of around 1:10 ,000 according to Rubbo and Lucas [16], which is thought to be higher in consanguineous populations [17]. However, other references in the literature consider a much lower prevalence, affecting approximately 1 in 20,000 individuals [18].…”

“…However, PCD is not just a respiratory disease because half of the PCD cases are associated with situs inversus and heterotaxy, and in these latter cases, there is a high correlation with congenital heart disease [16]. Male sterility is common in adults because normal sperm flagella are special motile cilia and in PCD patients The Zebrafish Kupffer's Vesicle: A Special Organ in a Model Organism to Study Human Diseases DOI: http://dx.doi.org /10.5772/intechopen.88266 may present defective motility.…”

Lung function in primary ciliary dyskinesia: breaking the myth that this is a mild disease

“…The fact that two reports (which have used different lung function measures) show a relationship between specific ultrastructural defects and lung function raises interesting mechanistic questions about disease severity and a spectrum of effective mucociliary clearance mediated by the specific ultrastructural defect. The marked disease heterogeneity within PCD is recognised [1] and may partly be explained by efficiency of ciliary function determined by specific ultrastructural defects. For now, the data relating worse lung function to microtubular defects should at least alert clinicians to the potential need for more aggressive management in these patients to try to minimise progressive decline.…”

Mucociliary Clearance: Measures and Therapies

“…However, when the cilia beat is asynchronous, MCC may be ineffective [3,4]. In primary ciliary dyskinesia, the asynchronous movements can be visualized on microscopic analysis [5].…”