Scriver C R, Reade T M, DeLuca H F, Hamstra A J
N Engl J Med. 1978 Nov 2;299(18):976-9. doi: 10.1056/NEJM197811022991803.
The serum concentration of 1,25-dihydroxylvitamin D (1,25-[OH]2D) in normal children and in children with inherited diseases of bone was compared by use of a competitive binding assay. Observed values were: in 12 normal children and adolescents, 37.1 +/- 1.9 pg per milliliter (mean +/- S.D.); in 14 patients with X-linked hypophosphatemic rickets treated with vitamin D2 and phosphate supplements, 15.6 +/- 7.8 (P less than 0.01 versus control); in six patients with autosomal recessive vitamin D dependency treated with vitamin D2, 9.5 +/- 2.9 (P less than 0.01 versus control); and in four untreated patients with autosomal dominant hypophosphatemic (non-rachitic) bone disease, 30.2 +/- 6.3 (not significantly different from the controls). The difference in bone disease between X-linked hypophosphatemia (severe) and hypophosphatemic bone disease (mild) at comparable low serum levels of phosphate implies that 1,25-(OH)2D and phosphate may have independent roles in the pathogenesis of defective bone mineralization.
采用竞争性结合分析法比较了正常儿童和患有遗传性骨病儿童的血清1,25 - 二羟维生素D（1,25 - [OH]2D）浓度。观察值如下：12名正常儿童和青少年中，为37.1±1.9皮克/毫升（均值±标准差）；14名接受维生素D2和磷酸盐补充剂治疗的X连锁低磷性佝偻病患者中，为15.6±7.8（与对照组相比P<0.01）；6名接受维生素D2治疗的常染色体隐性维生素D依赖患者中，为9.5±2.9（与对照组相比P<0.01）；4名未经治疗的常染色体显性低磷性（非佝偻病性）骨病患者中，为30.2±6.3（与对照组无显著差异）。在血清磷酸盐水平相当低的情况下，X连锁低磷血症（严重）和低磷性骨病（轻度）在骨病方面的差异表明，1,25 - (OH)2D和磷酸盐在骨矿化缺陷的发病机制中可能具有独立作用。
