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成人起病的维生素D抵抗性骨软化症伴甲状旁腺激素无反应性。

Adult-onset vitamin D-resistant osteomalacia with the unresponsiveness to parathyroid hormone.

作者信息

Fujita T, Nomura M, Okajima S, Furuya H

出版信息

J Clin Endocrinol Metab. 1980 May;50(5):927-31. doi: 10.1210/jcem-50-5-927.

DOI:10.1210/jcem-50-5-927
PMID:6246136
Abstract

Serum immunoreactive parathyroid hormone (PTH) levels were increased in a 50-yr-old man with a unique variant of adult-onset vitamin D-resistant osteomalacia, presenting with high phosphate clearance, mild hypocalcemia, and blunted hypercalcemic and phosphaturic responses to exogenous parathyroid extract. After normalization of his serum calcium level with a large amount of 1 alpha-hydroxycholecalciferol, a synthetic vitamin D analog, serum PTH levels and phosphate clearance returned to normal, and hypercalcemia as well as phosphaturia appeared when parathyroid extract was administered. Further studies demonstrated that the renal response could be restored by the administration of calcium with the suppression of PTH. The evidence presented suggests that the resistance of PTH in this patient was due to secondary hyperparathyroidism rather than to a defect of PTH-sensitive receptors of the kidney and bone or to inadequacy of vitamin D per se.

摘要

一名50岁男性患有一种独特类型的成人起病型维生素D抵抗性骨软化症,其血清免疫反应性甲状旁腺激素(PTH)水平升高,表现为高磷酸盐清除率、轻度低钙血症,以及对外源性甲状旁腺提取物的高钙血症和磷酸盐尿反应减弱。在用大量1α-羟胆钙化醇(一种合成维生素D类似物)使他的血清钙水平正常化后,血清PTH水平和磷酸盐清除率恢复正常,并且在给予甲状旁腺提取物时出现高钙血症和磷酸盐尿。进一步研究表明,通过补钙抑制PTH可恢复肾脏反应。所提供的证据表明,该患者对PTH的抵抗是由于继发性甲状旁腺功能亢进,而非肾脏和骨骼的PTH敏感受体缺陷或维生素D本身不足。

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Adult-onset vitamin D-resistant osteomalacia with the unresponsiveness to parathyroid hormone.成人起病的维生素D抵抗性骨软化症伴甲状旁腺激素无反应性。
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引用本文的文献

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2
Insights from genetic disorders of phosphate homeostasis.磷酸盐稳态遗传障碍的研究进展。
Semin Nephrol. 2013 Mar;33(2):143-57. doi: 10.1016/j.semnephrol.2012.12.015.
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Hypophosphatemia in vitamin D receptor null mice: effect of rescue diet on the developmental changes in renal Na+ -dependent phosphate cotransporters.维生素 D 受体缺失小鼠的低磷血症:挽救饮食对肾脏钠依赖性磷酸盐共转运蛋白发育变化的影响。
Pflugers Arch. 2011 Jan;461(1):77-90. doi: 10.1007/s00424-010-0888-z. Epub 2010 Nov 5.
4
Resistance to 1,25-dihydroxyvitamin D. Association with heterogeneous defects in cultured skin fibroblasts.对1,25-二羟基维生素D的抵抗。与培养的皮肤成纤维细胞中的异质性缺陷相关。
J Clin Invest. 1983 Feb;71(2):192-200. doi: 10.1172/jci110759.
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J Clin Invest. 1985 Mar;75(3):954-60. doi: 10.1172/JCI111796.
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