Kistik Fibrozis ve Benzer Solunum Yolu Hastalıklarında Silya yapı ve İşlev Bozuklukları

The defects in cilia structure contributes to disease pathogenesis in cystic fibrosis, primary ciliary dyskinesia, and chronic obstructive pulmonary diseases. As a result of mutations in the genes responsible from mobile cilia structure, the microtubule structure is disrupted and protrusions and shrinkage occur in the cilium. These deformations cause loss of cilia function and decrease in ciliary beat frequency. This decrease disrupts the mucociliary clearance mechanism, which is called as the clearance mechanism of mucus from foreign microorganisms and bacteria in the airways. The macrophages and neutrophils migrating to the environment cause cytokine storm due to the inability of mucus to be cleared from the epithelial surface and the disease course exacerbates with the activation of inflammatory pathways. In this review, genes that have a function in mobile cilia formation and that show direct or indirect expression changes in cystic fibrosis, primary ciliary dyskinesia, and chronic obstructive pulmonary diseases are summarized. As a result of change in the expression of these genes, cell differentiation on the lung epithelial surface and lung pathophysiology are affected.