COMPARATIVE CHARACTERISTICS OF RICKETS-LIKE DISEASES

Autor:	T. Yu. Proshlyakova, T. S. Korotkaya, S. Yu. Kuznetsova
Rok vydání:	2018
Předmět:	medicine.medical_specialty Endocrinology renotubular syndrome rickets-like diseases business.industry Vitamin D-dependent rickets Internal medicine Pediatrics Perinatology and Child Health medicine business Pediatrics RJ1-570 vitamin d-dependent rickets
Zdroj:	Rossijskij Vestnik Perinatologii i Pediatrii, Vol 63, Iss 3, Pp 19-25 (2018)
ISSN:	2500-2228 1027-4065
DOI:	10.21508/1027-4065-2018-63-3-19-25
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7786130e423bd0625300e046b307818 https://doi.org/10.21508/1027-4065-2018-63-3-19-25 Zobrazit plný text záznamu