Idiopathic hypercalcemia in a child: a clinical case of hypervitaminosis and hypercalcemia in a young child

Abstract

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.

Keywords

• idiopathic infantile hypercalcemia
• hypervitaminosis d
• mutations in the cyp24a1 gene
• children