Vitamin D and Primary Ciliary Dyskinesia: A Topic to Be Further Explored

Abstract

Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormalities in ciliary structure/function. The diagnosis of PCD relies on a combination of clinical evaluation and ultrastructural (electron microscopic) analysis of the ciliary architecture. This diagnosis may be challenging due to clinical and genetic heterogeneity and artifacts during the ciliary ultrastructure preparation and assessment. Recently, vitamin D supplementation has been proposed for several groups probably suffering from D-hypovitaminosis. Some patients with inflammatory bowel disease may have significant malabsorption, and vitamin D supplementation in these patients is recommended. Two recent reports suggest that a low plasmatic level of this vitamin is present in the PCD population. The utility of vitamin D supplementation may be essential in this group of individuals, and further investigations are warranted. Still, in examining the literature papers, it seems relevant that the authors concentrate solely on lung function in both studies. Future studies should probably target the intestinal function in patients with PCD independently from the vitamin D supplementation to fully evaluate its role.