Calcium-sensing receptor: Role in health and disease.
Calcium-sensing receptor: Role in health and disease.
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DOI：
10.4103/2230-8210.104041
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发表时间：
2012-12
影响因子：
--
通讯作者：
Thakker RV
中科院分区：
文献类型：
--
作者：
Thakker RV
钙敏感受体（CaSR）是一种由1,078个氨基酸组成的G蛋白偶联受体（GPCR），主要在甲状旁腺和肾脏中表达。CaSR允许调节甲状旁腺激素（PTH）分泌和肾小管钙重吸收，以响应细胞外钙浓度的变化。在家族性良性（低钙尿）高钙血症（FBH或FHH）、新生儿重度原发性甲状旁腺功能亢进（NSHPT）和成人原发性甲状旁腺功能亢进的高钙血症疾病中，已报告了功能丧失型CaSR突变。然而，一些具有功能丧失型CaSR突变的个体仍然保持正常的血钙。功能获得性CaSR突变已被证明会导致常染色体显性低钙血症伴高钙尿症（ADHH）和Bartter综合征V型。在没有功能丧失性CaSR突变的FHH患者和患有获得性甲状旁腺功能减退症（即自身免疫性）的患者中发现了CaSR自身抗体。因此，CaSR异常与4种高钙血症和3种低钙血症疾病相关。
The calcium-sensing receptor (CaSR) is a 1,078 amino acid G protein-coupled receptor (GPCR), which is predominantly expressed in the parathyroids and kidney. The CaSR allows regulation of parathyroid hormone (PTH) secretion and renal tubular calcium re-absorption in response to alterations in extracellular calcium concentrations. Loss-of-function CaSR mutations have been reported in the hypercalcemic disorders of familial benign (hypocalciuric) hypercalcemia (FBH or FHH), neonatal severe primary hyperparathyroidism (NSHPT), and adult primary hyperparathyroidism. However, some individuals with loss-of-function CaSR mutations remain normocalcemic. Gain-of-function CaSR mutations have been shown to result in autosomal-dominant hypocalcemia with hypercalciuria (ADHH) and Bartter's syndrome type V. CaSR auto-antibodies have been found in FHH patients who did not have loss-of-function CaSR mutations and in patients with an acquired form (i.e. autoimmune) of hypoparathyroidism. Thus, abnormalities of the CaSR are associated with 4 hypercalcemic and 3 hypocalcemic disorders.