A novel homozygous inactivating mutation of the calcium-sensing receptor causing familial hypocalciuric hypercalcemia complicated with primary hyperparathyroidism due to parathyroid adenoma: A case report.

Abstract excerpt

Familial hypocalciuric hypercalcemia is an autosomal dominant genetic disorder characterized by mild to moderate hypercalcemia, mild hypermagnesemia, and normal or inappropriately elevated parathyroid hormone levels. Familial hypocalciuric hypercalcemia 1 is the most prevalent form of familial hypocalciuric hypercalcemia and is typically caused by heterozygous loss-of-function mutations in the calcium-sensing...

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