familial hypocalciuric hypercalcemia type I
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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
More general terms
References
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998