Primary ciliary dyskinesia (Kartagener syndrome): a case of late diagnosis and follow-up

Abstract

Primary ciliary dyskinesia (PCD) is an autosomal recessive disease that develops as a result of an ultrastructural defect of the cilia and flagella. The symptoms are non-specific, especially in childhood, and are characterized by recurrent rhinitis and bronchitis, often with obstruction. Half of the patients with PCD are diagnosed with such clear clinical manifestation as Kartagener’s syndrome (chronic bronchitis, chronic sinusitis, reverse position of internal organs (situs inversus), but even in these cases the diagnosis can be difficult.The aim of this paper was to demonstrate a clinical case of late diagnosis of PCD in a child with classic Kartagener syndrome and concomitant atopy, and the results of 11 years of follow-up and microbiological monitoring. The stages of the diagnostic search are presented in detail and typical errors on the way to diagnosis are analyzed.Conclusion. This clinical observation demonstrates the difficulties of diagnosing PCD in a patient with concomitant atopy. It is noted that appropriate continued monitoring and timely therapy are crucial for children with PCD. The need to standardize approaches to the diagnosis and management of patients with PCD, including continuity during transfer to the adult healthcare network, is emphasized.