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Vitamin D-dependent rickets type 1A
https://doi.org/10.21508/1027-4065-2022-67-4-137-142
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.
About the Authors
E. A. Potrokhova
Veltischev Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
L. S. Baleva
Veltischev Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
M. P. Safonova
Veltischev Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
A. E. Sipyagina
Veltischev Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
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Review
For citations:
Potrokhova E.A., Baleva L.S., Safonova M.P., Sipyagina A.E. Vitamin D-dependent rickets type 1A. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2022;67(4):137-142. (In Russ.) https://doi.org/10.21508/1027-4065-2022-67-4-137-142
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