Severe Hypercalcemia Associated With Perinatal Hypophosphatasia While Receiving Enzyme Replacement Therapy.

JCEM case reports Pub Date : 2025-04-15 eCollection Date: 2025-05-01 DOI:10.1210/jcemcr/luaf066
Mostafa Salama, Alaa Al Nofal, Peter Tebben
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Abstract

Hypophosphatasia (HPP) is characterized by defective bone mineralization due to reduced function of tissue-nonspecific alkaline phosphatase (TNSALP) caused by pathogenic ALPL gene variants. Hypercalcemia is more common in the perinatal and infantile forms and may be mitigated or prevented with enzyme replacement therapy asfotase alfa (AA). Here, we report a patient who developed severe hypercalcemia while receiving AA. Hypercalcemia was initially managed with intravenous fluids, dietary calcium restriction, and maximizing AA dose. Despite these measures, she required an additional hospital admission, at which time calcitonin 4 IU/kg every 12 hours was initiated. On this regimen, her calcium normalized without recurrence of severe hypercalcemia. Over the subsequent 8 months, restrictions of calcium intake were slowly lifted, and calcitonin was tapered and discontinued with maintenance of calcium within the normal range. This case underscores the significance of vigilant monitoring of calcium levels and dietary intake in infants diagnosed with HPP. While calcitonin is typically not considered as a sustained treatment for hypercalcemia, the present case illustrates the efficacy of adjunct calcitonin therapy, in conjunction with restricted calcium intake and maximum AA dosing, in managing severe hypercalcemia in an infant with perinatal HPP.

接受酶替代治疗时伴有围产期低磷酸症的严重高钙血症。
低磷酸症(HPP)的特征是由于致病性ALPL基因变异引起的组织非特异性碱性磷酸酶(TNSALP)功能降低而导致骨矿化缺陷。高钙血症在围产期和婴儿期更为常见,可通过酶替代疗法asfotase alfa (AA)来减轻或预防。在此,我们报告一位在接受AA治疗时出现严重高钙血症的患者。高钙血症最初通过静脉输液、限制饮食钙和最大化AA剂量进行治疗。尽管采取了这些措施,她仍需要再次住院,并开始每12小时服用4 IU/kg的降钙素。在这个方案中,她的钙恢复正常,没有复发严重的高钙血症。在随后的8个月里,钙摄入限制逐渐解除,降钙素逐渐减少并停止使用,钙维持在正常范围内。本病例强调了警惕监测诊断为HPP的婴儿钙水平和饮食摄入的重要性。虽然降钙素通常不被认为是高钙血症的持续治疗,但本病例说明了辅助降钙素治疗,结合限制钙摄入和最大AA剂量,在控制围产期HPP婴儿严重高钙血症方面的疗效。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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