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.

Highlights

  • Flagella and motile cilia show a conserved axonemal structure

  • A caveat of this review is that very few previous investigations target the role of vitamin D in Primary ciliary dyskinesia (PCD) disease, so it is difficult to make conclusions based on this review

  • The results from Mirra et al and Marino et al are insufficient to suggest a role of vitamin D in PCD

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Summary

Introduction

Flagella and motile cilia show a conserved axonemal structure. They consist of a ring of nine microtubular doublets associated with a central pair of microtubules [1,2,3,4]. The central core axoneme is surrounded by a ciliary membrane has nine contrast, other details ofor the ultrastructural investigation may show theand limitations peripheral microtubule dou-blets associated with two single central microtubules. Cilia ofSome a healthy individual showing a classic arrangement This is due to the technical difficulty in having all cross-sections with the croscopy, see the bar for details regarding magnification).

PCD under the Lens
Vitamin D
Vitamin D Role in PCD
Findings
Conclusions
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