Clinical and genetic aspects of defi ciency rickets
Abstract
Deficiency rickets, despite the successes in its prevention and treatment, remains a pressing problem for pediatrics and health care. Until now, there is uncertainty in the choice of prophylactic and therapeutic doses of vitamin D. It is due to the fact that there is individual, constitutionally determined differences both in the predisposition to the development of the disease and in the individual degree of the body’s response to the vitamin preparation. Genomic characteristics of the body play a significant role in such individual differences. The review presents an analysis of modern literature devoted to the influence of genetic factors on the formation of individual predisposition to the development of deficiency rickets, as well as sensitivity to vitamin D preparations. For this purpose, a search was made in electronic databases for publications that meet the modern requirements of evidence-based medicine. Both traditional approaches (family and twin analysis) and the latest methods — genome-wide screening (GWAS) with the identification of genetic polymorphisms, as well as the detection of epigenetic markers, have proven the relationship between the genetic cause and the functioning of the main modulators of bone metabolism, as well as with the characteristics of the course of deficiency rickets. However, the number of publications investigating the direct relationship of genetic markers with the clinical aspects of deficiency rickets was limited. The genetic component plays a significant role in the formation of the main modulators of calcium and phosphorus metabolism. However, the degree of its influence on the occurrence of deficiency rickets has not yet been clearly quantified.
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