Familial hypocalciuric hypercalcemia overview: Difference between revisions
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==Classification== | ==Classification== | ||
Three genetically heterogeneous variants are reported so far for familial hypocalciuric hypercalcemia. | |||
Type 1 - due to loss-of-functional mutations of the calcium-sensing receptor (encoded by CASR). Type 2 - unknown cause. | |||
Type 3 - associated with adaptor-related protein complex 2, sigma 1 subunit (AP2S1) mutations, which alter calcium-sensing receptor endocytosis | |||
==Pathophysiology== | ==Pathophysiology== | ||
Revision as of 18:29, 21 September 2017
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Familial hypocalciuric hypercalcemia Microchapters |
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Differentiating Familial Hypocalciuric Hypercalcemia from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Historical Perspective
Until 1966 many asymptomatic hypercalcemic patients were identified to have familial hypocalciuric hypercalcemia, then Jackson and Boonstra described their first patient with hypercalcemia presumed to have hyperparathyroidism. He wasn't cured despite the removal of three and a half hyperplastic parathyroid glands. Subsequently, seventeen family members with hypercalcemia were identified in three generation.
Classification
Three genetically heterogeneous variants are reported so far for familial hypocalciuric hypercalcemia. Type 1 - due to loss-of-functional mutations of the calcium-sensing receptor (encoded by CASR). Type 2 - unknown cause. Type 3 - associated with adaptor-related protein complex 2, sigma 1 subunit (AP2S1) mutations, which alter calcium-sensing receptor endocytosis