SAT-077 Two Cases of Hypoparathyroidism Due to Activating Calcium Sensing Receptor Mutation
نویسندگان
چکیده
منابع مشابه
Activating antibodies to the calcium-sensing receptor in two patients with autoimmune hypoparathyroidism.
Autoimmune hypoparathyroidism is thought to result from immune-mediated destruction of the parathyroid glands. We encountered two patients with hypoparathyroidism and other autoimmune conditions (Graves' disease and Addison's disease, respectively) in whom autoimmune destruction of the parathyroid glands had not taken place. In the first, a histologically normal parathyroid gland was observed a...
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Familial hypoparathyroidism (also termed autosomal dominant hypocalcemia) is characterized by hypocalcemia, hyperphosphatemia, and relative hypercalciuria, particularly during treatment with vitamin D and calcium to correct the hypocalcemia. Serum parathyroid hormone is inappropriately suppressed. Over 30 activating missense mutations in the calcium-sensing receptor gene have been identified in...
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The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by inhibiting the apical potassium channel in the thick ascending limb of the loop of Henle in the kid...
متن کاملAutoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism.
Acquired hypoparathyroidism (AH) has been considered to result from an autoimmune process but the self-antigens have not been identified. We studied 25 patients with AH, of which 17 had type I autoimmune polyglandular syndrome and 8 had AH associated with autoimmune hypothyroidism. Five of 25 (20%) AH sera reacted to a membrane-associated antigen of 120-140 kD in human parathyroid gland extract...
متن کاملActivating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification.
The extracellular calcium-sensing receptor (CaSR) plays a pivotal role in the regulation of extracellular calcium such that abnormalities, which result in a loss or gain of function, lead to hypercalcemia or hypocalcemia, respectively, in patients. Mice carrying CaSR knockout alleles develop hypercalcemia that mimics the disorders observed in humans. To date, there is no mouse model for an acti...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2020
ISSN: 2472-1972
DOI: 10.1210/jendso/bvaa046.083