Familial pseudohypoparathyroidism without somatic anomalies.
Familial pseudohypoparathyroidism without somatic anomalies.
复制标题
无躯体异常的家族性假性甲状旁腺功能减退症。
DOI：
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发表时间：
1980
影响因子：
14.6
通讯作者：
I. Hughes
中科院分区：
文献类型：
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作者：
J. Winter;I. Hughes
描述了一个家族，其中受影响的个体表现出假性甲状旁腺功能减退症，伴有低钙血症、高磷血症和甲状旁腺激素血清水平升高，但没有任何与这种疾病相关的躯体异常。未经治疗的个体显示出纤维性骨炎的放射学证据。甲状旁腺激素的给药仅引起环磷酸腺苷的排泄略有增加，但肾小管对磷酸盐的重吸收没有变化，血清钙水平也没有升高。乙二胺四乙酸的输注导致血清甲状旁腺激素水平适当升高，但同样没有对该激素产生明显的肾脏或骨骼反应。降钙素、促甲状腺素或催乳素水平没有相关异常，也没有甲状腺功能障碍。维生素 D 治疗纠正了低钙血症，但没有改善肾脏和骨骼对甲状旁腺激素的反应性。该家族中该疾病的遗传符合具有可变外显率的常染色体显性模式，但不能排除其他模式。
A family is described in which affected individuals showed pseudohypoparathyroidism, with hypocalcemia, hyperphosphatemia and increased serum levels of parathyroid hormone, but none of the somatic anomalies frequently associated with this disorder. The untreated individuals showed radiologic evidence of osteitis fibrosa. The administration of parathyroid hormone evoked only a slight increase in the excretion of cyclic adenosine monophosphate but no change in the renal tubular reabsorption of phosphate and no rise in the serum calcium level. The infusion of ethylenediamine tetra-acetic acid caused an appropriate increase in the serum level of parathyroid hormone, but again there was no apparent renal or skeletal response to the hormone. There were no associated abnormalities in calcitonin, thyrotropin or prolactin levels and no thyroid dysfunction. Therapy with vitamin D corrected the hypocalcemia but did not improve the renal and skeletal responsiveness to parathyroid hormone. The inheritance of the disorder in this family was compatible with an autosomal dominant mode with variable penetrance, but other modes could not be excluded.