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Article

Successful treatment of hypercalcemia in a Chinese patient with a novel homozygous mutation in the CYP24A1 gene using zoledronic acid: a case report.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Sept 2023

Zheng Zhichao, Wu Yujie, Wu Huiping, Jin Jiahui, Luo Yue, Cao Shunshun, Shan Xiaoou

Abstract excerpt

OBJECTIVES: 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. CASE PRESENTATION: 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...

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Identifiers

PMID: 37358380
DOI: 10.1515/jpem-2023-0212

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