Parathyroid hormone-dependent hypercalcemia.

[familial hypocalciuric hypercalcemia]

The past fifteen years have resulted in great progress in our understanding of the pathogenesis and pathophysiology of hypercalcemic disorders occurring either sporadically or in a familial setting . This paper briefly reviews the clinically most important new knowledge on sporadic and hereditary forms of parathyroid hormone -dependent hypercalcemic disorders , with special emphasis on familial syndromes such as multiple endocrine neoplasia type 1 and type 2 A , hyperparathyroidism-jaw tumor syndrome , familial isolated hyperparathyroidism , familial hypocalciuric hypercalcemia and neonatal severe primary hyperparathyroidism . In addition , the authors briefly present the most important clinical characteristics of 141 patients with parathyroid hormone -dependent hypercalcemia , including index patients of 18 families with hereditary disorders , diagnosed in a Hungarian endocrine center between 1997 and 2007 .