Beer S, Tieder M, Kohelet D, Liberman O A, Vure E, Bar-Joseph G, Gabizon D, Borochowitz Z U, Varon M, Modai D
Clin Endocrinol (Oxf). 1981 Apr;14(4):395-402. doi: 10.1111/j.1365-2265.1981.tb00626.x.
A 4-year-old girl presented with severe clinical and radiological rickets, and alopecia since the age of 1 year. Laboratory studies revealed: hypocalcaemia, hypophosphataemia, secondary hyperparathyroidism, abnormally low intestinal calcium absorption, and markedly elevated circulating 1,25(OH)2D3 levels. A normal calcaemic response to parathyroid extract was obtained. Treatment attempts with vitamin D2, 1 alpha (OH)D3 and 1,25(OH)2D3 were totally ineffective. Intestinal resistance to the action of 1,25(OH)2D3 appeared well established in this case. Refractoriness of bone to this hormone seems less certain. From this new entity of 'Vitamin D resistant rickets due to end organ unresponsiveness', six cases have been hitherto reported in the literature. However, only two have enough resemblance to our case, to constitute a distinct and well defined nosologic subunit. The molecular basis of this disorder(s) remains to be elucidated.
一名4岁女童自1岁起出现严重的临床和放射学表现的佝偻病及脱发。实验室检查显示：低钙血症、低磷血症、继发性甲状旁腺功能亢进、肠道钙吸收异常低下以及循环中1,25(OH)₂D₃水平显著升高。对甲状旁腺提取物的血钙反应正常。使用维生素D₂、1α(OH)D₃和1,25(OH)₂D₃进行治疗均完全无效。在该病例中，肠道对1,25(OH)₂D₃作用的抵抗似乎已明确存在。骨骼对这种激素的难治性似乎不太确定。在文献中，迄今已报道了6例“由于终末器官无反应性导致的维生素D抵抗性佝偻病”这一新实体病例。然而，只有2例与我们的病例有足够的相似性，可构成一个独特且明确的疾病分类亚单位。这种疾病的分子基础仍有待阐明。
