Familial hypocalciuric hypercalcemia classification: Difference between revisions
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==Overview== | ==Overview== | ||
Familial hypocalciuric hypercalcemia is classified into three types. | |||
Type-1: | |||
Type-2: | |||
Type-3: | |||
==Classification== | ==Classification== | ||
Revision as of 12:53, 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
Familial hypocalciuric hypercalcemia is classified into three types. Type-1: Type-2: Type-3:
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[1][2].