Rosen J F, Fleischman A R, Finberg L, Hamstra A, DeLuca H F
J Pediatr. 1979 May;94(5):729-35. doi: 10.1016/s0022-3476(79)80139-0.
Rickets with alopecia, an inborn error of vitamin D metabolism, is described in two sisters. The rachitic disorder began during the first year of life and was refractory to 50,000 IU of vitamin D2/day. Surprisingly, both children had marked elevations in serum concentrations of 1,25-(OH)2D. Although the molecular basis for this disorder is not evident to date, intestinal end-organ unresponsiveness to exceedingly high levels of 1,25-(OH)2D was present, in addition to hyporesponsiveness of bone to these high levels of the hormone, since normocalcemia was maintained despite elevated serum levels of PTH. Therapy with oral 1,25-(OH)2D3 failed to reverse the disorder, but oral phosphorus supplements resulted in significant radiographic and clinical improvement.
两名姐妹被诊断患有伴有脱发的佝偻病，这是一种维生素D代谢的先天性缺陷疾病。佝偻病在出生后第一年开始出现，对每日50,000国际单位的维生素D2治疗无效。令人惊讶的是，两个孩子的血清1,25-(OH)2D浓度均显著升高。尽管迄今为止这种疾病的分子基础尚不明确，但除了骨骼对这些高水平激素反应低下外，肠道终末器官对极高水平的1,25-(OH)2D也无反应，因为尽管血清甲状旁腺激素水平升高，但仍维持了正常血钙水平。口服1,25-(OH)2D3治疗未能逆转病情，但口服磷补充剂使影像学和临床症状有了显著改善。
