CYP24A1变异导致的婴儿高钙血症1型治疗进展

doi:10.12372/jcp.2025.24e1259

Abstract

Abstract:

Hypercalcemia of Infancy Type 1 (HCINF1) is a rare genetic disorder resulting from pathogenic variants in the CYP24A1 gene. The disease typically manifests during infancy or adulthood, with highly variable clinical presentations. Management is categorized into acute and long-term phases. Acute management encompasses hydration, diuretic therapy, glucocorticoids, calcitonin, bisphosphonates, and, in severe cases, dialysis. Long-term strategies primarily focus on lifestyle modifications—particularly restriction of vitamin D and calcium intake—and pharmacological interventions that bypass impaired metabolic pathways. However, the durability, efficacy, and safety profile of these long-term therapies remain to be fully established and warrant further investigation. Currently, there is a lack of clinical management guidelines or consensus for HCINF1. This review summarizes current advances in therapeutic approaches with the aim of informing and improving clinical decision-making.

Key words: CYP24A1, infantile hypercalcemia type 1, vitamin D

CLC Number:

ZHANG Ting, MA Ming, JIANG Mizu. Progress in the treatment of infantile hypercalcemia type 1 induced by CYP24A1 variants[J].Journal of Clinical Pediatrics, 2025, 43(11): 872-877.

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Progress in the treatment of infantile hypercalcemia type 1 induced by CYP24A1 variants

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