Primary ciliary dyskinesia in a young woman: case report with challenged transition from pediatrics to adult network

Primary ciliary dyskinesia (PCD) is a rare genetic autosomal recessive disease associated with a defect in the ultrastructure of epithelial cilia. Currently, there is no standard method for diagnosing PCD, so the diagnosis is based on the clinical picture and the results of tests, such as DNA diagnostics, nasal nitric oxide measurements, ciliary beat frequency in a nasal biopsy, ciliary ultrastructure, etc. Diagnosis of PCD can be difficult due to secondary damage to the respiratory epithelium, which often results in undiagnosed or false positive cases. Differential diagnosis with diseases forming widespread bronchiectasis (BE) and upper respiratory tract lesions, especially with cystic fibrosis (CF), is necessary.

The aim of this paper is to introduce the difficulties of diagnosis, the appropriate level of detail of the clinical, laboratory and instrumental characteristics over a long period of time, and the organization of care for a patient with PCD. This article describes a clinical case of PCD in a young woman, diagnosed at the age of 17, presents the difficulties and typical mistakes in the management of such patients, and the lack of succession of pediatrician-pulmonologist care.

Conclusion. The presented clinical case demonstrates how difficult the diagnosis of PCD is. Such patients need a complex examination, a thorough differential diagnosis to exclude other diseases with a similar clinical picture. Long-term follow-up is carried out by a multidisciplinary team with mandatory microbiological monitoring. The organized care for patients should begin in early childhood and continue in adulthood with proper succession of care and follow-up by of pulmonologist, preferably in specialized centers.

1. Kondratyeva E.I., Avdeev S.N., Mizernitskiy Y.L. et al. [Primary ciliary dyskinesia: review of the draft clinical guidelines, 2022]. Pul’monologiya. 2022; 32 (4): 517-538. DOI: 10.18093/0869-0189-2022-32-4-517-538 (in Russian).

2. Damseh N., Quercia N., Rumman N. et al. Primary ciliary dyskinesia: mechanisms and management. Appl. Clin. Genet. 2017; 10: 67-74. DOI: 10.2147/TACG.S127129.

3. Hirst R.A., Jackson C.L., Coles J.L. et al. Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid. PLoS One. 2014; 9 (2): e89675. DOI: 10.1371/journal.pone.0089675.

4. Alanin M.C., Nielsen K.G., von Buchwald C. et al. A longitudinal study of lung bacterial pathogens in patients with primary ciliary dyskinesia. Clin. Microbiol. Infect. 2015; 21 (12): 1093.e1-e7. DOI: 10.1016/j.cmi.2015.08.020.

5. Leigh M.W., Horani A., Kinghorn B. et al. Primary ciliary dyskinesia (PCD): a genetic disorder of motile cilia. Transl. Sci. Rare Dis. 2019; 4 (1-2): 51-75. DOI: 10.3233/TRD-190036.

6. Lucas J.S., Leigh M.W. Diagnosis of primary ciliary dyskinesia: searching for a gold standard. Eur. Respir. J. 2014; 44 (6): 1418-1422. DOI: 10.1183/09031936.00175614.

7. Lucas J.S., Barbato A., Collins S.A. et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur. Respir. J. 2017; 49 (1): 1601090. DOI: 10.1183/13993003.01090-2016.

8. Jorissen M., Willems T., van der Schueren B. Ciliary function analysis for the diagnosis of primary ciliary dyskinesia: advantages of cilio-genesis in culture. Acta Otolaryngol. 2000; 120 (2): 291-295. DOI: 10.1080/000164800750001116.

9. Lucas J.S., Walker W.T., Kuehni C.E., Lazor R. Primary ciliary dyskinesia. In: Courdier J.F., ed. Orphan Lung Diseases. Lausanne: ERS; 2011: 201-217. DOI: 10.1183/1025448x.10008310.

10. Novak A.A., Mizernitskiy Y.L. [Primary ciliary dyskinesia: state of the problem and prospects]. Meditsinskiy sovet. 2021; (1): 276-285. DOI: 10.21518/2079-701X-2021-1-276-285 (in Russian).

11. Frolov PA., Zhestkova M.A., Ovsyanikov D.Yu. et al. [Predictors of severe course and evaluation of the effectiveness of a stepwise complex conservative therapy of bronchiectasis not associated with cystic fibrosis in children]. Pediatriya. Zhurnal imeni G.N.Speranskogo. 2022; (4): 29-36. DOI: 10.24110/0031-403X-2022-101-4-29-36 (in Russian).

12. Kuehni C.E., Frischer T., Strippoli M.P. et al. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur. Respir. J. 2010; 36 (6): 1248-1258. DOI: 10.1183/09031936.00001010.

13. Campbell R.G., Birman C.S., Morgan L. Management ofotitis media with effusion in children with primary ciliary dyskinesia: a literature review. Int. J. Pediatr. Otorhinolaryngol. 2009; 73 (12): 1630-1638. DOI: 10.1016/j.ijporl.2009.08.024.