Understanding primary ciliary dyskinesia.
airway
bronchiectasis
cilia
ciliopathies
heterotaxy
infection
inflammation
situs inversus totalis
Journal
Pediatric pulmonology
ISSN: 1099-0496
Titre abrégé: Pediatr Pulmonol
Pays: United States
ID NLM: 8510590
Informations de publication
Date de publication:
28 Oct 2024
28 Oct 2024
Historique:
revised:
30
09
2024
received:
17
09
2024
accepted:
02
10
2024
medline:
28
10
2024
pubmed:
28
10
2024
entrez:
28
10
2024
Statut:
aheadofprint
Résumé
Primary ciliary dyskinesia (PCD) is a rare, inherited disease characterized by impaired motile ciliary function leading to chronic sinopulmonary disease, persistent middle ear effusions, laterality defects, and subfertility. Over fifty PCD-associated genes have also been identified, which have provided new insights into the processes involved into ciliary assembly, structure, and function. Historically, the diagnosis of PCD was based on the presence of ultrastructural defects in the ciliary axoneme but with identification of a growing number of disease-associated genes, genetic testing has become a first-line diagnostic tool. Other approaches have also evolved, that have improved our diagnostic capabilities. Treatments for PCD have lagged, and though our growing understanding of the genetic and pathophysiological bases of the disease of PCD may yield to better therapeutic strategies.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Dr. Ferkol's work has been supported by National Institutes of Health awards (U54HL096458, TR3860, AI146999, HG009650) and has received research funding from ReCode Therapeutics and Parion Sciences for clinical studies.
Informations de copyright
© 2024 Wiley Periodicals LLC.
Références
Hogg C, Ferkol T. Primary ciliary dyskinesia. In: Wilmott R, Bush A, Ratjen F, Deterding R, Zar H, Sly P, LiA, eds. Kendig's Disorders of the Respiratory Tract in Children. 10th ed. Elsevier; 2024:657‐668.
Wee WB, Kinghorn B, Davis SD, Ferkol TW, Shapiro AJ. Primary ciliary dyskinesia. Pediatrics. 2024;153:e2023063064.
Leigh MW, Ferkol TW, Davis SD, et al. Clinical features and associated likelihood of primary ciliary dyskinesia in children and adolescents. Ann Am Thorac Soc. 2016;13:1305‐1313.
Davis SD, Rosenfeld M, Lee HS, et al. Primary ciliary dyskinesia: longitudinal study of lung disease by ultrastructure defect and genotype. Am J Respir Crit Care Med. 2019;199:190‐198.
Raidt J, Riepenhausen S, Pennekamp P, et al. Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype‐phenotype correlations. Eur Respir J. 2024;64:2301769.
Shapiro AJ, Zariwala MA, Ferkol T, et al. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state‐of‐the‐art review. Pediatr Pulmonol. 2016;51:115‐132.
Kobbernagel HE, Buchvald FF, Haarman EG, et al. Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double‐blind, randomised, placebo‐controlled phase 3 trial. Lancet Respir. 2020;8:493‐505.