Идиопатическая гиперкальциемия у ребенка: клинический случай гипервитаминоза D и гиперкальциемии у ребенка раннего возраста

Autor:	N.S. Lukianenko, M.I. Dushar, O.O. Dobryk
Rok vydání:	2021
Předmět:	Calcium metabolism medicine.medical_specialty business.industry Disease medicine.disease vitamin D deficiency Hypervitaminosis D Endocrinology CYP24A1 Hypoparathyroidism Internal medicine medicine Vitamin D and neurology Nephrocalcinosis business
Zdroj:	KIDNEYS. 9:249-253
ISSN:	2307-1265 2307-1257
DOI:	10.22141/2307-1257.9.4.2020.218240
Popis:	Against the background of an almost global pandemic of vitamin D deficiency, especially in childhood, it is necessary to shar­pen the attention of doctors to conditions that are accompanied by hypervitaminosis D and severe disorders of phosphorus and calcium metabolism, which lead to dangerous consequences. These include idiopathic infantile hypercalcemia. Idiopathic infantile hypercalcemia is a rare hereditary autosomal recessive disease associated with impaired inactivation of active metabolites of vitamin D due to inactivating mutations in the CYP24A1 gene. The article describes a clinical case of hypervitaminosis D, hypercalcemia, hypoparathyroidism, the development of nephrocalcinosis in a young child against the background of inactivating mutations of the CYP24A1 gene.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::0b650f3c6f222ee50bd8e5ddd3f29217 https://doi.org/10.22141/2307-1257.9.4.2020.218240 Zobrazit plný text záznamu