Plasma ceramides and sphingomyelins increase in primary ciliary dyskinesia but decrease in cystic fibrosis

Abstract

Purpose: Mucociliary clearance is impaired in primary ciliary dyskinesia (PCD) and mucus composition is altered in cystic fibrosis (CF) with CFTR impairment. Although the clinical course is very similar in both, pulmonary disease has a better prognosis in PCD. We investigated ceramide (C) and sphingomyelin (SM) levels in pediatric PCD and CF patients. Methods: Plasma samples were obtained from CF (n=19) and PCD patients (n=7) at exacerbation, discharge and control (first month after discharge). SM16, SM18, SM24, C16, C18, C20, C22 and C24 levels were measured by LC-MS/MS. Data were compared with healthy children (n=17) of similar age. Results: All SM and C levels measured at exacerbation were higher in PCD than CF (p Conclusion: There was a dramatic difference in the plasma levels of most C and SM species between PCD and CF patients compared to healthy children. The cilia pathology in PCD and CFTR mutation in CF seem to alter sphingolipid metabolism possibly in different directions. New studies may shed light on the association between increased plasma C and SM to PCD pathogenesis.