Drezner M K, Neelon F A, Haussler M, McPherson H T, Lebovitz H E
J Clin Endocrinol Metab. 1976 Apr;42(4):621-8. doi: 10.1210/jcem-42-4-621.
Pseudohypoparathyroidism (PsH) is a genetic disease characterized by hypocalcemia, hyperphosphatemia, and metabolic unresponsiveness to parathyroid hormone (PTH). The administration of PTH elicits neither a significant rise in serum calcium (calcemic response) nor a decrease in the renal tubule reabsorption of phosphorus (phosphaturic response). The diminished phosphaturic response is due to an inability of PTH to generate cyclic AMP in renal tubule cells. We investigated the question of whether hypocalcemia and deficient calcemic response to PTH are due to a similar cyclic AMP defect in bone or to an acquired vitamin D deficiency. Four patients were studied. The active form of vitamin D (1,25-dihydroxycholecalciferol) was measured in 3 and was low. Treatment with vitamin D2 restored the serum calcium and the calcemic response to PTH to normal without changing the impaired renal response. Bone biopsy was performed in 2 patients and showed morphologic evidence of increased osteoclastic activity and osteomalacia. The data indicate that the hypocalcemia and bone disease in PsH are due to active vitamin D deficiency, possibly resulting from the genetic renal lesion.
假性甲状旁腺功能减退症（PsH）是一种遗传性疾病，其特征为低钙血症、高磷血症以及对甲状旁腺激素（PTH）的代谢无反应。给予PTH既不会引起血清钙显著升高（血钙反应），也不会导致肾小管对磷的重吸收减少（排磷反应）。排磷反应减弱是由于PTH无法在肾小管细胞中生成环磷酸腺苷（cAMP）。我们研究了低钙血症和对PTH的血钙反应不足是由于骨骼中类似的cAMP缺陷还是由于后天性维生素D缺乏这一问题。对4例患者进行了研究。测定了其中3例患者的活性维生素D（1,25 - 二羟胆钙化醇），结果偏低。用维生素D2治疗可使血清钙和对PTH的血钙反应恢复正常，而不改变受损的肾脏反应。对2例患者进行了骨活检，显示有破骨细胞活性增加和骨软化的形态学证据。数据表明，PsH中的低钙血症和骨病是由于活性维生素D缺乏，这可能是由遗传性肾脏病变导致的。
