Late verification of primary ciliary dyskinesia and new diagnostic possibilities

Cystic fibrosis (CF) and primary ciliary dyskinesia (PCD) are hereditary lung diseases. Cystic fibrosis is a monogenic disease, while PCD has a genetically heterogeneous nature and is 2 times less common than CF. More than 50 genes are responsible for PCD, one of them being the DNAAF11 gene (LRRC6 according to the previous nomenclature) – the assembly factor of the external and internal dynein arms. When the mutation is present, components of the dynein arms remain in the cytoplasm of cells. The aim is to present a clinical case of a newly diagnosed PCD in a 44-year-old woman with a homozygous pathogenic variant of the nucleotide sequence NM_012472.6:c.436G>C in the DNAAF11 gene. This clinical case demonstrates the complexity of verification and differential diagnosis of cystic fibrosis and primary ciliary dyskinesia, the features of the disease, and the modern diagnostic capabilities. The difficulties and some typical mistakes in the management of such patients are presented. Conclusion. The presented clinical case illustrates the difficulties of PCD diagnosis. It demonstrates that such patients need a comprehensive examination for a thorough differential diagnosis to exclude diseases with a similar clinical picture. The long-term follow-up is carried out by a multidisciplinary team of specialists and must include microbiological monitoring.

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