一名患有威廉姆斯-贝伦综合征的婴儿单次输注双膦酸盐（帕米膦酸盐）后高钙血症的长期控制
Long-term control of hypercalcaemia in an infant with williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate).
作者信息
Oliveri B, Mastaglia S R, Mautalen C, Gravano J C, Pardo Argerich L
机构信息
Sección Osteopatías Médicas, Hospital de Clínicas, Argentina.
出版信息
Acta Paediatr. 2004 Jul;93(7):1002-3. doi: 10.1111/j.1651-2227.2004.tb02703.x.
AIM
To report the efficacy of Pamidronate to treat hypercalcaemia in a patient with Williams-Beuren syndrome (WBS).
RESULTS
We report a 14-mo-old male infant presenting hypercalcaemia, elfin face and other dysmorphological features of WBS, confirmed by the FISH fluorescent test. Due to the marked symptomatic hypercalcaemia, 13.0 mg/dl intravenous Pamidronate was administered in a single dose of 1 mg/kg. Two days later, serum calcium diminished to normal levels, and remained within normal range during 12 mo follow-up.
CONCLUSION
Pamidronate appears to be effective in paediatric patients with WBS and hypercalcaemia.
目的
报告帕米膦酸治疗威廉姆斯-贝伦综合征（WBS）患者高钙血症的疗效。
结果
我们报告了一名14个月大的男婴，表现出高钙血症、小精灵面容及其他WBS的畸形特征，经荧光原位杂交（FISH）检测得以确诊。由于明显的症状性高钙血症，以1毫克/千克的单次剂量静脉注射了13.0毫克/分升的帕米膦酸。两天后，血清钙降至正常水平，并在12个月的随访期间维持在正常范围内。
结论
帕米膦酸似乎对患有WBS和高钙血症的儿科患者有效。
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