COMPARATIVE CHARACTERISTICS OF RICKETS-LIKE DISEASES
https://doi.org/10.21508/1027-4065-2018-63-3-19-25
Abstract
The review summarizes clinical features, biochemical and molecular-genetic characteristics, laboratory and instrumental indicators, as well as approaches to the treatment of ricket-like diseases: vitamin D-dependent rickets, renal tubular acidosis, de Toni-DebreFanconi syndrome. Differential diagnosis of this disease group is associated with a number of difficulties, the main of which are a fairly low frequency of certain forms occurrence and a strong resemblance with other diseases, that disrupt the metabolism, associated with the influence of many hereditary and external factors. Establishing an accurate diagnosis is important not only for correct and timely treatment, but also for medical-genetic family counseling and genetic risk calculation, since different disease forms have different inheritance types. A competent and timely diagnosis should be based on knowledge of the distinctive features of very similar diseases. The data described in this article can be used by doctors at all stages of the patient survey.
About the Authors
T. Yu. Proshlyakova
Research centre for medical genetics
Russian Federation
Russian Federation
Moscow
T. S. Korotkaya
Research centre for medical genetics
Russian Federation
Russian Federation
Moscow
S. Yu. Kuznetsova
Yu.E. Veltishchev Research Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
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Review
For citations:
Proshlyakova T.Yu., Korotkaya T.S., Kuznetsova S.Yu. COMPARATIVE CHARACTERISTICS OF RICKETS-LIKE DISEASES. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2018;63(3):19-25. (In Russ.) https://doi.org/10.21508/1027-4065-2018-63-3-19-25
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