Idiopathic infantile hypercalcemia: a family case


如何引用文章

全文:

开放存取 开放存取
受限制的访问 ##reader.subscriptionAccessGranted##
受限制的访问 订阅或者付费存取

详细

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.

全文:

受限制的访问

作者简介

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

参考

  1. Папиж С.В. Гиперкальциемия у детей. Нефрология. 2020;24(2):42-51. doi: 10.36485/1561-6274-2020-24-2-42-51.
  2. Stokes V.J., Nielsen M.F., Hannan F.M., et al. Hypercalcemic Disorders in Children. J Bone Miner Res. 2017;32(11):2157-70. Doi: 10.1002/ jbmr.3296.
  3. Schlingmann K.P., Kaufmann M., Weber S., et al. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med. 2011;365(5):410-21. doi: 10.1056/nejmoa1103864.
  4. Schlingmann K.P., Cassar W., Konrad M. Juvenile onset IIH and CYP24A1 mutations. Bone Rep. 2018;9:42-6. Doi: 10.1016/j. bonr.2018.06.005. Erratum in: Bone Rep. 2021;14:101085.
  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.

补充文件

附件文件
动作
1. JATS XML
下载

版权所有 © Bionika Media, 2022
##common.cookie##