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familial hypocalciuric hypercalcemia type I

Pathology: - reduced activity of Ca+2 sensing receptor (CASR) - FHH is characterized by altered Ca+2 homeostasis Genetics: - associated with a defect in Ca+2 sensing receptor (CASR) in parathyroid cells Clinical manifestations: - affected individuals exhibit mild or modest hypercalcemia, relative hypocalciuria, & inappropriately normal PTH levels

General

familial hypocalciuric hypercalcemia

Database Correlations

OMIM correlations MORBIDMAP 601199

References

  1. Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998