Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia.
Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia.
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DOI：
10.1530/boneabs.2.p90
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发表时间：
2013-06
影响因子：
1.3
通讯作者：
S. Skálová;L. Cerna;M. Bayer;Š. Kutílek;M. Konrad;K. Schlingmann
中科院分区：
文献类型：
--
作者：
S. Skálová;L. Cerna;M. Bayer;Š. Kutílek;M. Konrad;K. Schlingmann
特发性婴儿高钙血症（IIH）是一种罕见的疾病引起的CYP 24 A1功能丧失突变，导致受损的降解1，25-二羟维生素D3。帕米膦酸盐是一种静脉给药的双膦酸盐，是一种有效的骨吸收抑制剂，仅报告过一次用于治疗IIH。我们报告一个先前健康的5个月大的IIH男孩，血钙峰值为5 mmol/L。甲泼尼龙和呋塞米治疗仅产生轻微影响;因此，2次静脉输注帕米膦酸盐（每剂0.6 mg/kg）将血清钙水平校正至2.95 mmol/L。此外，在该患者中发现了CYP 24 A1纯合突变p.R396W（c.1186c>t），证实了IIH的临床诊断。总之，IIH一旦被正确检测和适当治疗，就会有良好的结局。帕米膦酸盐对糖皮质激素和呋塞米不能达到预期效果的IIH患者有有益作用。
Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Pamidronate, an intravenously administered bisphosphonate, which is a potent inhibitor of bone resorption, has been reported only once for treatment IIH. We present a case of a previously healthy 5-month-old boy with IIH, where calcemia peaked to 5 mmol/L. Treatment with methylprednisone and furosemide had only minor effects; therefore, 2 intravenous infusions of pamidronate (0.6 mg/kg per dose) corrected the serum calcium level to 2.95 mmol/L. Furthermore, CYP24A1 homozygous mutation p.R396W (c.1186c>t) was identified in this patient, confirming the clinical diagnosis of IIH. In conclusion, IIH has a favorable outcome once properly detected and appropriately treated. Pamidronate has a beneficial effect in those patients with IIH where glucocorticoids and furosemide fail to meet the expectations.