Familial hypocalciuric hypercalcemia historical perspective
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ajay Gade MD[2]]
Overview
Until 1966 many asymptomatic hypercalcemic patients were identified to have familial hypocalciuric hypercalcemia (FHH), then Jackson and Boonstra described their first patient with hypercalcemia presumed to have hyperparathyroidism. He was not cured despite the removal of three and a half hyperplastic parathyroid glands. Subsequently, seventeen family members with hypercalcemia were identified in three generations.
Historical Perspective
- In the year 1966 FHH was first described by Jackson and Boonstra in a hypercalcemic patient presumed to have hyperparathyroidism. He was not 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 1990 the National Institutes of Health (NIH) held a conference to establish the principles for diagnosing FHH along with its medical and surgical management guidelines.[4]
- In 1993 Brown Et al identified a bovine parathyroid cell calcium-sensing receptor cDNA by expression cloning in Xenopus laevis oocytes. The cDNA encodes 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 magnesium reabsorption.[5]
- In 1995 studies were conducted to characterize the mutations of calcium-sensing receptors in FHH and neonatal hyperparathyroidism.[6]
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”.
- ↑ “Summary Statement from a Workshop on Asymptomatic Primary Hyperparathyroidism: A Perspective for the 21st Century | The Journal of Clinical Endocrinology & Metabolism | Oxford Academic”.
- ↑ “Cloning and characterization of an extracellular Ca2+-sensing receptor from bovine parathyroid”.
- ↑ “Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism”.
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