Pathogenesis[ edit ] Most cases of FHH are associated with loss of function mutations in the calcium-sensing receptor CaSR gene,  expressed in parathyroid and kidney tissue. As a result, inhibition of parathyroid hormone release does not occur until higher serum calcium levels are attained, creating a new equilibrium. This is the opposite of what happens with the CaSR sensitizer, cinacalcet. Functionally, parathyroid hormone PTH increases calcium resorption from the bone and increases phosphate excretion from the kidney which increases serum calcium and decreases serum phosphate. Individuals with FHH, however, typically have normal PTH levels, as normal calcium homeostasis is maintained, albeit at a higher equilibrium set point.
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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.
This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health.
Visit the website to explore the biology of this condition. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. Each entry has a summary of related medical articles. Access to this database is free of charge. PubMed is a searchable database of medical literature and lists journal articles that discuss Familial hypocalciuric hypercalcemia. Click on the link to view a sample search on this topic. We remove all identifying information when posting a question to protect your privacy.
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Familial hypocalciuric hypercalcemia
Nearly all adults with high calcium levels will have a parathyroid tumor, and just a few will have FHH. FHH is often diagnosed incorrectly. If you have been told that you may have FHH, read this page! What is FHH?
Familial hypocalciuric hypercalcemia and related disorders.
Familial Hypocalciuric Hypercalcemia