Brooks M H, Bell N H, Love L, Stern P H, Orfei E, Queener S F, Hamstra A J, DeLuca H F
N Engl J Med. 1978 May 4;298(18):996-9. doi: 10.1056/NEJM197805042981804.
Studies were done to determine the cause for hypocalcemia, secondary hyperparathyroidism, osteomalacia and osteitis fibrosa cystica in a 22-year-old black woman. The patient had normal serum 25-hydroxyvitamin D (14 ng per milliliter) and markedly elevated serum 1,25-dihydroxyvitamin D (137 pg per milliliter). Vitamin D3, 4000 units per day for four weeks, increased the serum 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D to as high as 29 and 297 pg per milliliter, respectively, and corrected the hypocalcemia and secondary hyperparathyroidism. The results suggest that the disorder results from impaired end-organ response to 1,25-dihydroxyvitamin D. We propose that the entity be called vitamin-D-dependent rickets Type II.
针对一名22岁黑人女性低钙血症、继发性甲状旁腺功能亢进、骨软化症和囊性纤维性骨炎的病因展开了研究。该患者血清25-羟维生素D水平正常（每毫升14纳克），而血清1,25-二羟维生素D水平显著升高（每毫升137皮克）。每天服用4000单位维生素D3，持续四周后，血清25-羟维生素D和1,25-二羟维生素D分别升高至每毫升29皮克和297皮克，并纠正了低钙血症和继发性甲状旁腺功能亢进。结果表明，该病症是由于终末器官对1,25-二羟维生素D反应受损所致。我们建议将该病症称为II型维生素D依赖性佝偻病。
