Zheng Zhichao, Wu Yujie, Wu Huiping, Jin Jiahui, Luo Yue, Cao Shunshun, Shan Xiaoou
Department of Pediatric Endocrinology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, P.R. China.
The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, P.R. China.
J Pediatr Endocrinol Metab. 2023 Jun 27;36(9):886-889. doi: 10.1515/jpem-2023-0212. Print 2023 Sep 26.
To emphasize the significance of genetic mutations in idiopathic infantile hypercalcemia and the potential therapeutic effectiveness of zoledronic acid in managing hypercalcemia attributed to gene mutations.
A 1-year-old female infant was referred to our hospital. The patient developed hypercalcemia despite no vitamin D prophylaxis or intake. In the acute phase, conventional calcium-lowering treatments showed limited efficacy, while the administration of zoledronic acid demonstrated effectiveness in controlling hypercalcemia. Subsequently the patient maintained normal calcium levels via a low-calcium diet and avoiding vitamin D intake. Genetic testing confirmed a homozygous mutation (c.476G>C) in the CYP24A1 gene.
Family screening and genetic counseling are crucial for early detection and prevention of hypercalcemia. This case emphasizes the importance of genetic mutations in disease development and the potential therapeutic efficacy of zoledronic acid in managing hypercalcemia attributed to gene mutations.
强调基因突变在特发性婴儿高钙血症中的重要性，以及唑来膦酸在治疗由基因突变引起的高钙血症方面的潜在疗效。
一名1岁女婴被转诊至我院。该患者在未进行维生素D预防或摄入的情况下出现高钙血症。在急性期，传统的降钙治疗效果有限，而唑来膦酸的给药显示出控制高钙血症的有效性。随后，患者通过低钙饮食和避免摄入维生素D维持了正常的钙水平。基因检测证实CYP24A1基因存在纯合突变（c.476G>C）。
家族筛查和遗传咨询对于高钙血症的早期发现和预防至关重要。该病例强调了基因突变在疾病发展中的重要性，以及唑来膦酸在治疗由基因突变引起的高钙血症方面的潜在疗效。
