作者
Simon HS Pearce, Catherine Williamson, Olga Kifor, Mei Bai, Malcolm G Coulthard, Michael Davies, Nicholas Lewis-Barned, David McCredie, Harley Powell, Pat Kendall-Taylor, Edward M Brown, Rajesh V Thakker
发表日期
1996/10/10
期刊
New England Journal of Medicine
卷号
335
期号
15
页码范围
1115-1122
出版商
Massachusetts Medical Society
简介
Background
The calcium-sensing receptor regulates the secretion of parathyroid hormone in response to changes in extracellular calcium concentrations, and mutations that result in a loss of function of the receptor are associated with familial hypocalciuric hypercalcemia. Mutations involving a gain of function have been associated with hypocalcemia in two kindreds. We examined the possibility that the latter type of mutation may result in a phenotype of familial hypocalcemia with hypercalciuria.
Methods
We studied six kindreds given a diagnosis of autosomal dominant hypoparathyroidism on the basis of their hypocalcemia and normal serum parathyroid hormone concentrations, a combination that suggested a defect of the calcium-sensing receptor. The hypocalcemia was associated with hypercalciuria, and treatment with vitamin D resulted in increased hypercalciuria, nephrocalcinosis, and renal impairment …
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SHS Pearce, C Williamson, O Kifor, M Bai… - New England Journal of Medicine, 1996