Department of Internal Medicine and Oncology, Semmelweis University, Budapest, Hungary.
Department of Physiology, Semmelweis University, Budapest, Hungary.
Endocrine. 2021 Mar;71(3):611-617. doi: 10.1007/s12020-021-02620-5. Epub 2021 Feb 2.
The calcium-sensing receptor (CaSR) provides the major mechanism for the detection of extracellular calcium concentration in several cell types, via the induction of G-protein-coupled signalling. Accordingly, CaSR plays a pivotal role in calcium homeostasis, and the CaSR gene defects are related to diseases characterized by serum calcium level changes. Activating mutations of the CaSR gene cause enhanced sensitivity to extracellular calcium concentration resulting in autosomal dominant hypocalcemia or Bartter-syndrome type V. Inactivating CaSR gene mutations lead to resistance to extracellular calcium. In these cases, familial hypocalciuric hypercalcaemia (FHH1) or neonatal severe hyperparathyroidism (NSHPT) can develop. FHH2 and FHH3 are associated with mutations of genes of partner proteins of calcium signal transduction. The common polymorphisms of the CaSR gene have been reported not to affect the calcium homeostasis itself; however, they may be associated with the increased risk of malignancies.
钙敏感受体（CaSR）通过诱导 G 蛋白偶联信号传导，为几种细胞类型检测细胞外钙离子浓度提供了主要机制。因此，CaSR 在钙稳态中起着关键作用，并且 CaSR 基因缺陷与血清钙水平变化特征的疾病有关。CaSR 基因的激活突变导致对细胞外钙离子浓度的敏感性增强，导致常染色体显性低钙血症或 Bartter 综合征 V 型。失活的 CaSR 基因突变导致对细胞外钙的抵抗。在这些情况下，可发展为家族性低钙性高钙血症（FHH1）或新生儿严重甲状旁腺功能亢进症（NSHPT）。FHH2 和 FHH3 与钙信号转导的伴侣蛋白基因的突变有关。已经报道 CaSR 基因的常见多态性不会影响钙稳态本身；然而，它们可能与恶性肿瘤的风险增加有关。
