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 defect in the ultrastructure of epithelial cilia. Currently, there no standard method for diagnosing PCD, so diagnosis based on clinical picture and results tests, such as DNA diagnostics, nasal nitric oxide measurements, beat frequency biopsy, ultrastructure, etc. Diagnosis PCD can be difficult due to secondary damage respiratory epithelium, which often undiagnosed or false positive cases. Differential diseases forming widespread bronchiectasis (BE) upper tract lesions, especially cystic fibrosis (CF), necessary. The aim this paper introduce difficulties diagnosis, appropriate level detail clinical, laboratory instrumental characteristics over long period time, organization care patient PCD. This article describes case young woman, diagnosed at age 17, presents typical mistakes management patients, lack succession pediatrician-pulmonologist care. Conclusion. presented demonstrates how is. Such patients need complex examination, thorough differential exclude other similar picture. Long-term follow-up carried out by multidisciplinary team mandatory microbiological monitoring. organized should begin early childhood continue adulthood proper pulmonologist, preferably specialized centers.