Weisman Y, Bab I, Gazit D, Spirer Z, Jaffe M, Hochberg Z
Bone Disease Unit, Ichilov Hospital, Sackler Faculty of Medicine, Tel Aviv University, Israel.
Am J Med. 1987 Nov;83(5):984-90. doi: 10.1016/0002-9343(87)90666-8.
Two boys aged six and four with the syndrome of hereditary resistance to 1,25-dihydroxyvitamin D3 with rickets alopecia and growth retardation are presented. After unsuccessful therapeutic trials with pharmacologic doses of vitamin D or its active metabolites, the patients were treated by long-term intracaval infusions of calcium through an implantable catheter. A total of 0.5 to 0.9 g of elemental calcium was infused daily for 18 months and the serum calcium concentration was maintained at 9 to 10 mg/dl. Bone pain subsided within one week of treatment. Serum phosphorus, immunoreactive parathyroid hormone, and 1,25-dihydroxyvitamin D concentrations and alkaline phosphatase activity were normalized within four to nine months. Radiographs of the knees and hands revealed progressive healing of rickets with complete resolution after one year of treatment. The patients gained 12 cm and 8 cm per year in height as compared with 3 cm and 2 cm, respectively, in the previous year. A transilial bone biopsy obtained from one patient prior to treatment revealed severe osteomalacia associated with osteitis fibrosa. A follow-up biopsy examined after 12 months of therapy showed almost complete healing of osteomalacia and normal mineralization. These observations indicate the following: (1) Long-term intracaval calcium infusions are an effective mode of therapy for these patients, and (2) When adequate serum calcium and phosphorus concentrations are maintained, healing of rickets and normal growth rate could be achieved even in the absence of a normal 1,25-dihydroxyvitamin D3 receptor-effector system.
本文报告了两名患有遗传性1,25 - 二羟维生素D3抵抗综合征的男孩，年龄分别为6岁和4岁，伴有佝偻病、脱发和生长发育迟缓。在使用药理剂量的维生素D或其活性代谢产物进行治疗试验失败后，通过可植入导管对患者进行长期腔内钙输注治疗。每天输注0.5至0.9克元素钙，持续18个月，血清钙浓度维持在9至10毫克/分升。治疗一周内骨痛减轻。血清磷、免疫反应性甲状旁腺激素、1,25 - 二羟维生素D浓度和碱性磷酸酶活性在4至9个月内恢复正常。膝关节和手部的X线片显示佝偻病逐渐愈合，治疗一年后完全恢复。患者身高每年增长12厘米和8厘米，而前一年分别为3厘米和2厘米。一名患者在治疗前进行的经髂骨活检显示严重骨软化症伴纤维性骨炎。治疗12个月后的随访活检显示骨软化症几乎完全愈合，矿化正常。这些观察结果表明：（1）长期腔内钙输注是这些患者的有效治疗方式；（2）当维持足够的血清钙和磷浓度时，即使缺乏正常的1,25 - 二羟维生素D3受体 - 效应系统，也可实现佝偻病的愈合和正常生长速度。
