钙敏感受体与甲状旁腺疾病

钙敏感受体（CASR）为机体维持钙稳态、保持正常生理功能的关键环节。CASR的活化可抑制甲状旁腺激素分泌，减少。肾小管钙的重吸收，促进甲状腺C细胞降钙素分泌。CASR失活性突变可引起家族性良性低尿钙性高钙血症（FBHH）及新生儿严重甲状旁腺功能亢进症（NSHFF），激活性突变引起常染色体显性遗传性低钙血症伴高尿钙（ADHH）。获得性甲状旁腺功能亢进时病变甲状旁腺中CASR表达减少，CASR基因多态性可能与甲状旁腺功能亢进症的临床表现严重程度相关。CASR也是自身免疫性甲状旁腺功能减退症的关键自身抗原。

Calcium-sensing receptor and parathyroid diseases

Calcium-sensing receptor(CASR) plays a critical role in maintenance of calcium homeostasis to keep normal physiological functions. The activation of CASR can inhibit parathyroid hormone secretion in parathyroid glands, reduce calcium resorption in renal tubule and stimulate calcitonin secretion in thyroid C cells. Loss of function mutations of CASR occur in familial hypocalciuric hypercalcemia(FBHH) and neonatal severe hyperparathyroidism(NSHPT) while gain of function mutations lead to autosomal dominant hypocalcemia with hypercalciuria(ADHH). The expression of CASR reduces markedly in tumors of acquired hyperparathyroidism. CASR gene polymorphism may be relative to serum calcium level, severity of primary or secondary hyperparathyroidism. CASR is the key autoantigen in autoimmune hypoparathyroidism.