Primary ciliary dyskinesia in children.
DOI:
https://doi.org/10.52692/1857-0011.2021.3-71.51Keywords:
ciliary dyskinesia, bronchiectasis, childAbstract
Primary ciliary dyskinesia is characterized by impaired mucociliary clearance and contributes to the recurrence ofrecurrent and chronic upper and lower respiratory tract infections. In this paper we elucidated a clinical case confirmedin the Pneumology Clinic of the Institute of Mother and Child, where he was investigated by ECG, pulmonary Rg, pulmonary CT, saccharin test. Morbid history of persistent wet cough, mucopurulent sputum, nasal voice, difficult nasalbreathing. Radiography of the paranasal sinuses showed signs of pansinusitis. At pulmonary CT, there were characteristicsigns of chronic broncho-pulmonary processes - varicose and sac-shaped bronchiectasis, pleuro-pulmonary adhesions,fibro-atelectatic areas in various segments. Spirometry – moderate and severe restrictive and obstructive disorders.Key words: ciliary dyskinesia, bronchiectasis, child.
References
Aprea, I.; Nöthe-Menchen, T.; Dougherty, et al. Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system. Mol.Hum. Reprod. 2021, 27
Davis, S.D.; Rosenfeld, M.; Lee, H.S.; 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
Lucas JS, Barbato A, Collins SA, et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J 2017; 49: 1601090
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.
Nöthe-Menchen, T.; Wallmeier, J.; Pennekamp, P.; et al. Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice. Circ. Genom. Precis. Med. 2019, 12, e002686
Shoemark A, Boon M, Brochhausen C, et al. International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria). Eur Respir J 2020; 55: 1900725
Shoemark, A.; Rubbo, B.; Legendre, M.; et al. Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia. Eur. Respir. J. 2021, 58,
Wallmeier, J.; Nielsen, K.G.; Kuehni, C.E.; et al. Motile ciliopathies. Nat. Rev. Dis. Primers 2020, 6, 77.
Wallmeier, J.; Al-Mutairi, D.A.; Chen, C.T.; et al. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat. Genet. 2014, 46, 646–651.
Downloads
Published
Issue
Section
License
Copyright (c) 2022 Bulletin of the Academy of Sciences of Moldova. Medical Sciences
This work is licensed under a Creative Commons Attribution 4.0 International License.