Familial hypocalciuric hypercalcemia historical perspective: Difference between revisions
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{{Familial hypocalciuric hypercalcemia}} | {{Familial hypocalciuric hypercalcemia}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}}{{Ajay}} | ||
==Overview== | ==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== | ==Historical Perspective== | ||
* In the year 1966 FHH was first described by Jackson and Boonstra in a [[Hypercalcemia|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.<ref name="urlThe relationship of hereditary hyperparathyroidism to endocrine adenomatosis - ScienceDirect">{{cite web |url=http://www.sciencedirect.com/science/article/pii/0002934367901143?via%3Dihub |title=The relationship of hereditary hyperparathyroidism to endocrine adenomatosis - ScienceDirect |format= |work= |accessdate=}}</ref><ref name="urlFamilial Hypocalciuric Hypercalcemia | SpringerLink">{{cite web |url=https://link.springer.com/article/10.1023/A%3A1026566418011 |title=Familial Hypocalciuric Hypercalcemia | SpringerLink |format= |work= |accessdate=}}</ref> | |||
* In the year 1966 FHH was first described by Jackson and Boonstra in a hypercalcemic patient presumed to have | |||
* 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<ref name="urlFamilial Hypocalciuric Hypercalcemia | SpringerLink">{{cite web |url=https://link.springer.com/article/10.1023/A%3A1026566418011 |title=Familial Hypocalciuric Hypercalcemia | SpringerLink |format= |work= |accessdate=}}</ref> | * A similar family was identified in the year 1972 by Foley Et al. The family members of both the families were [[asymptomatic]] and [[Hypercalcemia|hypercalcemic]] which is very typical of FHH.<ref name="urlFamilial Hypocalciuric Hypercalcemia | SpringerLink">{{cite web |url=https://link.springer.com/article/10.1023/A%3A1026566418011 |title=Familial Hypocalciuric Hypercalcemia | SpringerLink |format= |work= |accessdate=}}</ref> | ||
* In 1990 ten cases of pancreatitis were reported in patients with family members of FHH<ref name="urlFamilial hypocalciuric hypercalcaemia and pancreatitis: no causal link proven - Stuckey - 1990 - Internal Medicine Journal - Wiley Online Library">{{cite web |url=http://onlinelibrary.wiley.com/doi/10.1111/j.1445-5994.1990.tb00407.x/abstract?systemMessage=Wiley+Online+Library+will+be+unavailable+on+Saturday+7th+Oct+from+03.00+EDT+%2F+08%3A00+BST+%2F+12%3A30+IST+%2F+15.00+SGT+to+08.00+EDT+%2F+13.00+BST+%2F+17%3A30+IST+%2F+20.00+SGT+and+Sunday+8th+Oct+from+03.00+EDT+%2F+08%3A00+BST+%2F+12%3A30+IST+%2F+15.00+SGT+to+06.00+EDT+%2F+11.00+BST+%2F+15%3A30+IST+%2F+18.00+SGT+for+essential+maintenance.+Apologies+for+the+inconvenience+caused+. |title=Familial hypocalciuric hypercalcaemia and pancreatitis: no causal link proven - Stuckey - 1990 - Internal Medicine Journal - Wiley Online Library |format= |work= |accessdate=}}</ref> | * In 1990 ten cases of [[pancreatitis]] were reported in patients with family members of FHH.<ref name="urlFamilial hypocalciuric hypercalcaemia and pancreatitis: no causal link proven - Stuckey - 1990 - Internal Medicine Journal - Wiley Online Library">{{cite web |url=http://onlinelibrary.wiley.com/doi/10.1111/j.1445-5994.1990.tb00407.x/abstract?systemMessage=Wiley+Online+Library+will+be+unavailable+on+Saturday+7th+Oct+from+03.00+EDT+%2F+08%3A00+BST+%2F+12%3A30+IST+%2F+15.00+SGT+to+08.00+EDT+%2F+13.00+BST+%2F+17%3A30+IST+%2F+20.00+SGT+and+Sunday+8th+Oct+from+03.00+EDT+%2F+08%3A00+BST+%2F+12%3A30+IST+%2F+15.00+SGT+to+06.00+EDT+%2F+11.00+BST+%2F+15%3A30+IST+%2F+18.00+SGT+for+essential+maintenance.+Apologies+for+the+inconvenience+caused+. |title=Familial hypocalciuric hypercalcaemia and pancreatitis: no causal link proven - Stuckey - 1990 - Internal Medicine Journal - Wiley Online Library |format= |work= |accessdate=}}</ref> | ||
* In 1993 Brown Et al identified a bovine parathyroid cell | * 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.<ref name="urlSummary Statement from a Workshop on Asymptomatic Primary Hyperparathyroidism: A Perspective for the 21st Century | The Journal of Clinical Endocrinology & Metabolism | Oxford Academic">{{cite web |url=https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.2002-021370 |title=Summary Statement from a Workshop on Asymptomatic Primary Hyperparathyroidism: A Perspective for the 21st Century | The Journal of Clinical Endocrinology & Metabolism | Oxford Academic |format= |work= |accessdate=}}</ref> | ||
* 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 receptor|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.<ref name="urlCloning and characterization of an extracellular Ca2+-sensing receptor from bovine parathyroid">{{cite web |url=http://www.nature.com/nature/journal/v366/n6455/abs/366575a0.html?foxtrotcallback=true |title=Cloning and characterization of an extracellular Ca2+-sensing receptor from bovine parathyroid |format= |work= |accessdate=}}</ref> | |||
* In 1995 studies were conducted to characterize the mutations of | * In 1995 studies were conducted to characterize the [[mutations]] of [[calcium]]-sensing receptors in FHH and [[neonatal]] [[hyperparathyroidism]].<ref name="urlCalcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.">{{cite web |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC185975/ |title=Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. |format= |work= |accessdate=}}</ref> | ||
==References== | ==References== | ||
Latest revision as of 13:01, 16 October 2017
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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".