Vitamin D-dependent rickets type 1A

Abstract

Vitamin D-dependent rickets type 1 is a rare autosomal recessive disorder caused by mutation of the CYP27B1 gene, that further leads to a decrease in the activity of 1A-hydroxylase and vitamin D metabolic disorder. The disease manifests itself by means of rickets-like changes, alike to the symptoms of vitamin D-deficiency rickets, what inhibits both the early diagnosis and timely appointment of an adequate pathogenetic therapy with the usage of active vitamin D metabolites. Etiology, pathogenesis, diagnosis, differential diagnosis, and treatment of vitamin D-dependent rickets type 1A issues are presented in this article. Using the example of the clinical case, it shows the principles of selecting an adequate dose of replacement therapy.