3. Calcium Sensing Receptor Gene Abnormality and Hypoparathyroidism
نویسندگان
چکیده
منابع مشابه
Calcium-Sensing Receptor Gene: Regulation of Expression
The human calcium-sensing receptor gene (CASR) has 8 exons, and localizes to chromosome 3q. Exons 1A and 1B encode alternative 5'-untranslated regions (UTRs) that splice to exon 2 encoding the AUG initiation codon. Exons 2-7 encode the CaSR protein of 1078 amino acids. Promoter P1 has TATA and CCAAT boxes upstream of exon 1A, and promoter P2 has Sp1/3 motifs at the start site of exon 1B. Exon 1...
متن کاملActivating 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...
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 mutations of the calcium - sensing receptor in primary hypoparathyroidism Mini - review
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...
متن کاملPrevalence of calcium sensing receptor autoantibodies in patients with sporadic idiopathic hypoparathyroidism.
OBJECTIVE The pathogenesis of sporadic idiopathic hypoparathyroidism is unclear. The calcium sensing receptor (CaSR) plays a pivotal role in extracellular calcium homeostasis and is the candidate autoantigen in hypoparathyroidism associated with autoimmune polyglandular endocrinopathy syndrome. We therefore looked for antibodies (Ab) against the CaSR in patients with sporadic idiopathic hypopar...
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ژورنال
عنوان ژورنال: Nihon Naika Gakkai Zasshi
سال: 2007
ISSN: 0021-5384,1883-2083
DOI: 10.2169/naika.96.702