familial benign hypercalcemia
- familial benign hypercalcemia
- familial hypocalciuric hypercalcemia a generally benign, usually asymptomatic, autosomal dominant condition characterized by hypercalcemia resulting from loss of function of the calcium-sensing receptor, so that higher than normal levels of blood calcium are needed to suppress parathyroid hormone secretion. Other characteristics include mild hypermagnesemia, normal or slightly elevated parathyroid hormone levels, and low urine levels of calcium. Homozygous individuals present with severe hyperparathyroidism at birth. Most cases are caused by mutation in the calcium-sensing receptor gene (CASR, locus: 3q13.3-q21); a few cases are caused by mutation at 19q13.
Medical dictionary.
2011.
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