PSEUDOHYPOPARATHYROIDISM TYPE II - POSSIBLE DEFECT IN RECEPTION OF CYCLIC-AMP SIGNAL
PSEUDOHYPOPARATHYROIDISM TYPE II - POSSIBLE DEFECT IN RECEPTION OF CYCLIC-AMP SIGNAL
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DOI：
10.1056/nejm197311152892003
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发表时间：
1973-01-01
影响因子：
158.5
通讯作者：
LEBOVITZ, HE
中科院分区：
文献类型：
--
作者：
DREZNER, M;NEELON, FA;LEBOVITZ, HE
一名22个月大的男婴出现大发作和低钙血症，服用外源性甲状旁腺提取物后，血清甲状旁腺激素浓度升高，尿中环磷酸腺苷排泄增加，尿环磷酸腺苷显著升高。然而，肾小管对磷酸盐的处理和血钙浓度对甲状旁腺激素的应用都没有适当的反应。这一缺陷似乎代表了细胞内对循环AMP信息的接收失败，这种疾病可能被称为假性甲状旁腺功能减退症II型。
A22 month old boy with grand-mal seizures and hypocalcemia, had an elevated serum concentration of parathyroid hormone, increased urinary excretion of cyclic AMP, and a marked rise in urinary cyclic AMP in response to exogenously administered parathyroid extract. However, neither the renal tubular handling of phosphate nor the serum calcium concentration responded appropriately to administered parathyroid hormone. This defect appears to represent a failure of intracellular reception of the cyclic AMP message, and the disorder might be called pseudohypoparathyroidism Type II. (N Engl J Med 289:1056–1060, 1973)