CYP24A1变异导致的婴儿高钙血症1型治疗进展

doi:10.12372/jcp.2025.24e1259

摘要/Abstract

摘要：

婴儿高钙血症1型（HCINF1）是由CYP24A1基因变异导致的罕见病，HCINF1的发病年龄多在婴儿期和成年期，临床表现多样。治疗分为急性期和长期治疗，急性期治疗包括水合作用、利尿剂、糖皮质激素、降钙素、双膦酸盐及透析治疗；长期治疗主要通过生活方式干预，减少维生素D和钙的摄入，药物替代代谢途径等，但其长期使用效果和安全性仍需进一步研究。目前尚缺乏针对HCINF1的临床管理指南或共识，故本文综述其治疗进展，以期对临床有指导意义。

关键词: CYP24A1, 婴儿高钙血症1型, 维生素D

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

中图分类号:

张婷, 马鸣, 江米足. CYP24A1变异导致的婴儿高钙血症1型治疗进展[J]. 临床儿科杂志, 2025, 43(11): 872-877.

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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