Avioli L V, Williams T F, Lund J, DeLuca H F
J Clin Invest. 1967 Dec;46(12):1907-15. doi: 10.1172/JCI105680.
The fate of an intravenous dose of tritiated vitamin D(3) was studied in seven normal subjects, four children with vitamin D-resistant rickets, and four adults with a familial history of vitamin D-resistant rickets and persistent hypophosphatemia. An abnormal metabolism of vitamin D in vitamin D-resistant rickets was defined and characterized by a decrease in the plasma fractional turnover rate, a marked increase in plasma water-soluble metabolites, and a relative decrease in the conversion of vitamin D to a polar, biologically active metabolite. Alterations in vitamin D metabolism in the adults with persistent hypophosphatemia were similar but less severe than those of affected children with vitamin D-resistant rickets. It is tentatively concluded that the abnormalities in vitamin D metabolism documented in patients with vitamin D-resistant rickets and familial hypophosphatemia may account for the observed osseous and biochemical changes.
对7名正常受试者、4名维生素D抵抗性佝偻病患儿以及4名有维生素D抵抗性佝偻病家族史且持续性低磷血症的成年人，研究了静脉注射氚标记维生素D(3)后的转归。维生素D抵抗性佝偻病患者体内维生素D代谢异常的定义和特征为：血浆分数周转率降低、血浆水溶性代谢产物显著增加，以及维生素D向极性生物活性代谢产物的转化相对减少。持续性低磷血症成年人的维生素D代谢改变与维生素D抵抗性佝偻病患儿相似，但程度较轻。初步得出结论，维生素D抵抗性佝偻病和家族性低磷血症患者体内记录的维生素D代谢异常，可能是观察到的骨骼和生化变化的原因。
