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.
Starets et al. (Sun,) studied this question.