Abstract：
OBJECTIVE: Infantile hypercalcemia-1 (HCINF1) is a rare disease caused by pathogenic variants in the CYP24A1 gene, resulting in the inability to metabolize active vitamin D. This leads to hypercalcemia and severe complications.
BACKGROUND: On December 8th, 2022, a systematic literature search was conducted in PubMed, Wanfang, and CNKI using the keywords \"hypercalcemia\" and \"CYP24A1\". Data extraction included patient demographics, clinical presentation, treatment medications, and outcomes. The findings were synthesized to identify common patterns and variations among cases and to assess the efficacy of different therapies in reducing serum calcium. Our findings revealed two distinct peaks in the incidence of HCINF1 caused by CYP24A1 pathogenic variant. Kidney stones or renal calcifications were the most common clinical manifestations of the disease, followed by polyuria and developmental delay. Laboratory investigations showed hypercalcemia, elevated vitamin D levels, hypercalciuria, and low parathyroid hormone. Genetic analysis remains the only reliable diagnostic tool. Although there is no definitive cure for HCINF1, multiple drugs, including bisphosphonates, calcitonin, and rifampicin, have been used to control its symptoms. Blocking the production and intake of vitamin D is the preferred treatment option.
UNASSIGNED: Our review highlights the basic clinical and biochemical features of HCINF1 and suggests that targeted diagnostic and therapeutic strategies are needed to address the clinical heterogeneity of the disease. The insights gained from this study may facilitate the development of innovative treatments for HCINF1.
BACKGROUND: On December 8th, 2022, a systematic literature search was conducted in PubMed, Wanfang, and CNKI using the keywords \"hypercalcemia\" and \"CYP24A1\". Data extraction included patient demographics, clinical presentation, treatment medications, and outcomes. The findings were synthesized to identify common patterns and variations among cases and to assess the efficacy of different therapies in reducing serum calcium. Our findings revealed two distinct peaks in the incidence of HCINF1 caused by CYP24A1 pathogenic variant. Kidney stones or renal calcifications were the most common clinical manifestations of the disease, followed by polyuria and developmental delay. Laboratory investigations showed hypercalcemia, elevated vitamin D levels, hypercalciuria, and low parathyroid hormone. Genetic analysis remains the only reliable diagnostic tool. Although there is no definitive cure for HCINF1, multiple drugs, including bisphosphonates, calcitonin, and rifampicin, have been used to control its symptoms. Blocking the production and intake of vitamin D is the preferred treatment option.
UNASSIGNED: Our review highlights the basic clinical and biochemical features of HCINF1 and suggests that targeted diagnostic and therapeutic strategies are needed to address the clinical heterogeneity of the disease. The insights gained from this study may facilitate the development of innovative treatments for HCINF1.
摘要：
目的：婴儿高钙血症-1（HCINF1）是由CYP24A1基因的致病变异引起的罕见疾病，导致无法代谢活性维生素D。这导致高钙血症和严重的并发症。
背景：12月8日，2022年，在PubMed进行了系统的文献检索，万方,和CNKI使用关键词“高钙血症”和“CYP24A1”。数据提取包括患者人口统计，临床表现,治疗药物,和结果。综合研究结果以确定病例之间的共同模式和变化，并评估不同疗法降低血清钙的功效。我们的发现揭示了CYP24A1致病变体引起的HCINF1发生率的两个不同峰。肾结石或肾钙化是本病最常见的临床表现,其次是多尿和发育迟缓。实验室调查显示高钙血症,维生素D水平升高,高钙尿症,和低甲状旁腺激素。基因分析仍然是唯一可靠的诊断工具。虽然HCINF1没有明确的治疗方法，但多种药物，包括双膦酸盐，降钙素,还有利福平,已被用来控制其症状。阻止维生素D的产生和摄入是优选的治疗选择。
■我们的综述强调了HCINF1的基本临床和生化特征，并建议需要有针对性的诊断和治疗策略来解决该疾病的临床异质性。从这项研究中获得的见解可能有助于开发HCINF1的创新治疗方法。
背景：12月8日，2022年，在PubMed进行了系统的文献检索，万方,和CNKI使用关键词“高钙血症”和“CYP24A1”。数据提取包括患者人口统计，临床表现,治疗药物,和结果。综合研究结果以确定病例之间的共同模式和变化，并评估不同疗法降低血清钙的功效。我们的发现揭示了CYP24A1致病变体引起的HCINF1发生率的两个不同峰。肾结石或肾钙化是本病最常见的临床表现,其次是多尿和发育迟缓。实验室调查显示高钙血症,维生素D水平升高,高钙尿症,和低甲状旁腺激素。基因分析仍然是唯一可靠的诊断工具。虽然HCINF1没有明确的治疗方法，但多种药物，包括双膦酸盐，降钙素,还有利福平,已被用来控制其症状。阻止维生素D的产生和摄入是优选的治疗选择。
■我们的综述强调了HCINF1的基本临床和生化特征，并建议需要有针对性的诊断和治疗策略来解决该疾病的临床异质性。从这项研究中获得的见解可能有助于开发HCINF1的创新治疗方法。
