Idiopathic infantile hypercalcemia: a family case


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Resumo

Background. Hypercalcemia is a manifestation of a wide range of hereditary and acquired conditions encountered in pediatric practice. There are two main groups of diseases occurring with hypercalcemia: parathyroid hormone (PTH)-dependent and PTH-independent. The most common causes of PTH-independent hypercalcemia are hypervitaminosis D, granulomatous and oncological diseases, idiopathic infantile hypercalcemia, and Williams syndrome. Description of the clinical case. The article presents two clinical cases of PTH-independent hypercalcemia in siblings, most likely associated with impaired vitamin D inactivation due to CYP24A1 gene mutation. Conclusion. In the presence of symptoms characteristic of hypercalcemia, it is important to suspect it in a timely manner, because early diagnosis and timely treatment of patients with hypercalcemia prevent the development of nephrolithiasis and urolithiasis. It must be remembered that against the background of taking prophylactic doses of vitamin D, in rare cases, hypercalcemia may occur as a result of a mutation in the CYP24A1 gene.

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Sobre autores

D. Sadykova

Kazan State Medical University, Department of Hospital Pediatrics

Department of Hospital Pediatrics Kazan, Russia

Tamara Makarova

Kazan State Medical University, Department of Hospital Pediatrics

Email: makarova-kgmu@mail.ru
Dr. Sci. (Med.), Professor, Department of Hospital Pediatrics Kazan, Russia

A. Shakirova

Children's Republican Clinical Hospital

Kazan, Russia

Yu. Melnikova

Kazan State Medical University, Department of Hospital Pediatrics

Department of Hospital Pediatrics Kazan, Russia

P. Sergina

Kazan State Medical University, Department of Hospital Pediatrics

Department of Hospital Pediatrics Kazan, Russia

A. Sergina

Kazan State Medical University, Department of Hospital Pediatrics

Department of Hospital Pediatrics Kazan, Russia

Bibliografia

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  5. Dauber A., Nguyen T.T., Sochett E., et al. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. J Clin Endocrinol Metab. 2012;97(2):E268-74. doi: 10.1210/jc.2011-1972.
  6. Madsen J., Sauer S., Beck B, et al. CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia. J Clin Res Pediatr Endocrinol. 2018;10(1):83-6. doi: 10.4274/jcrpe.4841.

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