Culler F L, Jones K L, Deftos L J
J Pediatr. 1985 Nov;107(5):720-3. doi: 10.1016/s0022-3476(85)80399-1.
Williams syndrome is associated with neonatal hypercalcemia of unclear pathogenesis. To learn more about the hormonal control of calcium metabolism in patients with Williams syndrome, we studied five such children, with intravenous calcium and parathyroid hormone infusions as provocative stimuli. These patients were found to have significantly higher mean baseline calcium concentrations, delayed clearance of calcium after intravenous calcium loading, and blunted calcitonin responses after calcium infusion, compared with a group of seven normal children. No abnormalities of vitamin D metabolite concentrations were found, either before or after parathyroid hormone stimulation. Our studies demonstrate that patients with Williams syndrome have a defect in the synthesis or release of immunoreactive calcitonin. A deficiency of calcitonin may explain the abnormalities of calcium metabolism seen in these patients and can serve as an important endocrine marker for Williams syndrome.
威廉姆斯综合征与发病机制不明的新生儿高钙血症有关。为了更深入了解威廉姆斯综合征患者钙代谢的激素调控情况，我们对5名此类患儿进行了研究，采用静脉注射钙剂和甲状旁腺激素作为激发刺激。与7名正常儿童组成的对照组相比，这些患者的平均基线钙浓度显著更高，静脉注射钙剂后钙清除延迟，钙剂输注后降钙素反应减弱。在甲状旁腺激素刺激前后均未发现维生素D代谢物浓度异常。我们的研究表明，威廉姆斯综合征患者在免疫反应性降钙素的合成或释放方面存在缺陷。降钙素缺乏可能解释了这些患者出现的钙代谢异常，并且可作为威廉姆斯综合征的一个重要内分泌标志物。
