Familial hypocalciuric hypercalcemia historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Historical Perspective
Discovery
- In the year 1966 FHH was first described by Jackson and Boonstra in a hypercalcemic patient 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 generations[1][2].
- A similar family was identified in the year 1972 by Foley Et al. The family members of both the families were asymptomatic and hypercalcemic which is very typical of FHH[2].
- In 1990 ten cases of pancreatitis were reported in patients with family members of FHH[3].
- In 1993 Brown Et al identified a bovine parathyroid cell Calcium sensing receptor cDNA by expression cloning in Xenopus laevis oocytes. The cDNA encoded a predicted 120-kD polypeptide containing a large extracellular domain and 7 membrane-spanning regions characteristic of G protein-coupled cell surface receptors. In addition to parathyroid tissue, It also identified the presence of CASR in regions of the kidney involved in Calcium regulated Calcium and Magnessium reabsorption[4].
- In 1995 studies were conducted to characterize the mutations of Calcium sensing mutations in FHH and Neonatal hyperparathyroidism[5].
References
- ↑ "The relationship of hereditary hyperparathyroidism to endocrine adenomatosis - ScienceDirect".
- ↑ 2.0 2.1 "Familial Hypocalciuric Hypercalcemia | SpringerLink".
- ↑ "Familial hypocalciuric hypercalcaemia and pancreatitis: no causal link proven - Stuckey - 1990 - Internal Medicine Journal - Wiley Online Library".
- ↑ "Cloning and characterization of an extracellular Ca2+-sensing receptor from bovine parathyroid".
- ↑ "Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism".