Moses A M, Notman D D
J Clin Endocrinol Metab. 1979 Nov;49(5):794-7. doi: 10.1210/jcem-49-5-794.
We have investigated an 18-yr-old hypercalciuric female with features of both renal hypercalciuria and pseudohypoparathyroidism. She had increased circulating parathyroid hormone levels, which are common to both diseases. She also had a modest hypocalcemia and low normal basal cAMP excretion, both of which are more likely to occur in pseudohypoparathyroidism. She also had Albright's osteodystrophy, which is frequent in patients with pseudohypoparathyroidism and has never been reported in patients with renal hypercalciuria. In contrast to patients with pseudohypoparathyroidism, her serum 1,25-dihydroxycholecalciferol level was increased and her renal responses to parathyroid hormone infusion, including renal calcium reabsorption, were normal. This patient, therefore, raises the possibility that some patients with renal hyperalciuria may have a forme fruste of pseudohypoparathyroidism.
我们研究了一名18岁的高钙尿症女性，她同时具有肾性高钙尿症和假性甲状旁腺功能减退的特征。她的循环甲状旁腺激素水平升高，这在两种疾病中都很常见。她还存在轻度低钙血症和基础环磷酸腺苷排泄略低于正常水平，这两种情况在假性甲状旁腺功能减退中更易出现。她也患有奥尔布赖特骨营养不良，这在假性甲状旁腺功能减退患者中很常见，而在肾性高钙尿症患者中从未有过报道。与假性甲状旁腺功能减退患者不同的是，她的血清1,25 - 二羟胆钙化醇水平升高，并且她对甲状旁腺激素输注的肾脏反应，包括肾脏对钙的重吸收，都是正常的。因此，这名患者提示了一些肾性高钙尿症患者可能存在假性甲状旁腺功能减退的顿挫型的可能性。
