EDITORIAL

Abstract

Dear  Readers,

New issue of Facta is in front of you. We have a great pleasure to welcome the invited article authored by one of the most cited and famous European Pediatric Team from Macedonia, Prof dr Velibor Tasic, pediatric nephrologist and Prof. dr Zoran Gucev pediatric endocrinologist.

Due to its pleiotropic effects, “the sunshine vitamin D” showed many beneficial effects and it is widely used as panacea. Nowadays, many of these attributed effects are challenged. Tasic and Gucev provided a review of the most recent data of pro et contra facts for such use of vitamin D. Showing that some individuals with variant of CYP24A1 gene are at  an unacceptable risk of developing severe, life threatening complications such as infantile hypercalcaemia, (previously called idiopathic), they warned us to respect interindividual differences in vitamin D response. In Macedonia, seven babies were diagnosed on clinical basis with idiopathic infantile hypercalcaemia. Testing on CYP24A1 mutations revealed that all had typical Central European E143del mutation. In adults this abnormal vitamin D degradation pathway is responsible for nephrolithiasis, nephrocalcinosis, hypercalciuria, intermittent episodes of hypercalcemia. In the absence of hypercalcemia suppressed PTH may be a clue to proper diagnosis in these individuals.

The authors made important conclusions and future directions for exploring the prevalence of vitamin D metabolic defect. This is also very important for prenatal or early postnatal diagnosis of CYP24A1 mutation carriers for implementation of early preventive measures. 

Editor-in-Chief
Ljiljana Šaranac