Modern Pediatrics. Ukraine. (2025).5(149): 151-155. doi: 10.15574/SP.2025.5(149).151155
Starets O. O., Chernysh S. B., Fedorenko O. V., Pyrogova A. S., Koban N. A.
Odessa National Medical University, Ukraine

For citation: Starets OO, Chernysh SB, Fedorenko OV, Pyrogova AS, Koban NA. (2025). A Diagnostic and management challenges of primary ciliary dyskinesia in children: analysis of a clinical case. Modern Pediatrics. Ukraine. 5(149): 151-155. doi: 10.15574/SP.2025.5(149).151155.
Article received: Jun 09, 2025. Accepted for publication: Sep 10, 2025.

Primary ciliary dyskinesia (PCD) is a rare genetic disorder of mucociliary clearance, typically presenting with persistent airway infections and ENT comorbidities, and is frequently underdiagnosed in the absence of situs inversus.
Aim – to highlight diagnostic and management challenges through a case of adolescent-onset PCD without situs inversus.
Clinical case. A 17-year-old female had neonatal pneumonia requiring prolonged hospitalization; at age 3 she developed bacterial pneumonia with destruction of the right middle lobe followed by varicose bronchiectasis. Since early childhood she experienced recurrent lower/upper respiratory tract infections, otitis media with effusion, exacerbations of chronic rhinosinusitis, and productive cough. Сystic fibrosis was excluded, and primary immunodeficiency was not confirmed. Chest CT showed varicose bronchiectasis of the right middle lobe. Molecular testing (2019) identified compound-heterozygous RSPH4A variants (c.1068G>A p.Trp356*; c.1818dupC p.Trp607Leufs*36) and a VUS in CCDC103 (c.82C>T p.Arg28Trp). Management included hypertonic (3–5%) saline inhalations, daily airway clearance/physiotherapy, nasal irrigations, antibiotic therapy as indicated, and multidisciplinary follow-up (pediatrics, pulmonology, otolaryngology).
Conclusions. The constellation of persistent productive cough, early-onset recurrent lower/upper airway infections, right middle lobe bronchiectasis, and absence of situs inversus should prompt targeted screening for PCD with molecular confirmation. Early multidisciplinary care is crucial to mitigate disease progression.
The study was conducted in accordance with the principles of the Declaration of Helsinki. The study protocol was approved by the Bioethics Committee of the mentioned institution. Informed consent was obtained from all participants.
The authors declare no conflict of interest.
Keywords: primary ciliary dyskinesia, bronchiectasis, adolescent, RSPH4A, otitis media with effusion, chronic rhinosinusitis, genetic testing, case report.

REFERENCES

1. Abitbul R, Amirav I, Blau H, Alkrinawi S, Aviram M, Shoseyov D et al. (2016). Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices. Respiratory medicine. 119: 41-47. https://doi.org/10.1016/j.rmed.2016.08.015; PMid:27692146

2. Halbeisen FS, Goutaki M, Spycher BD, Amirav I, Behan L, Boon M et al. (2018). Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study. The European respiratory journal. 52(2): 1801040. https://doi.org/10.1183/13993003.01040-2018; PMid:30049738

3. Hannah WB, Seifert BA, Truty R, Zariwala MA, Ameel K, Zhao Y et al. (2022). The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis. The Lancet. Respiratory medicine. 10(5): 459-468. https://doi.org/10.1016/S2213-2600(21)00453-7; PMid:35051411

4. Horani A, Ferkol TW. (2021). Understanding Primary Ciliary Dyskinesia and Other Ciliopathies. The Journal of pediatrics. 230: 15-22.e1. https://doi.org/10.1016/j.jpeds.2020.11.040; PMid:33242470 PMCid:PMC8690631

5. Paff T, Loges NT, Aprea I, Wu K, Bakey Z, Haarman EG et al. (2017). Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. American journal of human genetics. 100(1): 160-168. https://doi.org/10.1016/j.ajhg.2016.11.019; PMid:28041644 PMCid:PMC5223094

6. Shapiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel SD, Dell SD et al. (2016). Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatric pulmonology. 51(2): 115-132. https://doi.org/10.1002/ppul.23304; PMid:26418604 PMCid:PMC4912005

7. Wallmeier J, Frank D, Shoemark A, Nöthe-Menchen T, Cindric S, Olbrich H et al. (2019). De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. American journal of human genetics. 105(5): 1030-1039. https://doi.org/10.1016/j.ajhg.2019.09.022; PMid:31630787 PMCid:PMC6849114

8. Yiallouros PK, Kouis P, Middleton N, Nearchou M, Adamidi T, Georgiou A et al. (2015). Clinical features of primary ciliary dyskinesia in Cyprus with emphasis on lobectomized patients. Respiratory medicine. 109(3): 347-356. https://doi.org/10.1016/j.rmed.2015.01.015; PMid:25698650