Drezner M K, Neelon F A, Jowsey J, Lebovitz H E
J Clin Endocrinol Metab. 1977 Jul;45(1):114-22. doi: 10.1210/jcem-45-1-114.
A 17 year old man with longstanding hypocalcemia and hyperphosphatemia presented with incapacitating bone pain and progressive weakness nad bowing of the legs. The serum abnormalities were due to idiopathic hypoparathyroidism as evidenced by a decreased serum concentration of parathyroid hormone and an appropriate rise in urinary cyclic AMP and phosphate excretion, and serum calcium concentration, in response to exogenously administered parathyroid extract. The serum concentration of 1,25-dihydroxycholecalciferol was appropriately decreased. The bone findings were due to osteomalacia as documented by physical findings, bone roentgenograms, and bone biopsy. Normal renal tubular function, blood pH, and serum concentration of 25-hydroxycholecalciferol and elevated serum alkaline phosphatase excluded the common causes of osteomalacia. The data are consistent with the hypothsis that lack of parathyroid hormone causes both hypocalcemia and a decreased serum concentration of 1,25-dihydroxycholecalciferol which, in turn, limit the availability of calcium and cause defective synthesis of bone matrix resulting in abnormal mineralization.
一名17岁男性，长期存在低钙血症和高磷血症，出现了使人丧失能力的骨痛、进行性肌无力以及双腿弯曲。血清异常是由特发性甲状旁腺功能减退引起的，这可通过甲状旁腺激素血清浓度降低、尿中环磷酸腺苷和磷酸盐排泄以及血清钙浓度在外源性给予甲状旁腺提取物后适当升高得到证明。1,25 - 二羟胆钙化醇的血清浓度也相应降低。骨骼检查结果显示为骨软化症，这通过体格检查、骨骼X线片和骨活检得以证实。正常的肾小管功能、血液pH值、25 - 羟胆钙化醇的血清浓度以及升高的血清碱性磷酸酶排除了骨软化症的常见病因。这些数据与甲状旁腺激素缺乏导致低钙血症和1,25 - 二羟胆钙化醇血清浓度降低的假说一致，进而限制了钙的可用性并导致骨基质合成缺陷，从而导致矿化异常。
