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首页> 外文期刊>日本臨牀 >Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor
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Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor

机译：钙敏感受体突变导致家族性低钙血症和新生儿严重甲状旁腺功能亢进

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摘要

Calcium-sensing receptor (CaSR) plays an essential role in regulating secretion of parathyroid hormone. After the identification of CaSR, some cases of familial hypocalciuric hypercalcemia (FHH) were shown to have heterozygous inactivating mutations of CaSR. However, linkage study showed that there are additional two genetic loci for FHH in addition to the chromosomal location of CaSR gene. Furthermore, one family with heterozygous inactivating mutation of CaSR was shown to exhibit hypercalcemia with hypercalciuria. Therefore, heterozygous inactivating mutation of CaSR is not synonymous with FHH. In addition, patients with neonatal severe hyperparathyroidism were shown to have homozygous or compound heterozygous inactivating mutations of CaSR.
机译：钙敏感受体（CaSR）在调节甲状旁腺激素的分泌中起重要作用。鉴定出CaSR后，一些家族性低钙血症（FHH）病例显示具有CaSR的杂合失活突变。但是，连锁研究表明，除了CaSR基因的染色体位置外，FHH还有两个遗传位点。此外，CaSR杂合失活突变的一个家庭显示高钙血症伴高钙尿症。因此，CaSR的杂合失活突变不是FHH的同义词。另外，患有新生儿严重甲状旁腺功能亢进症的患者显示具有CaSR的纯合或复合杂合失活突变。

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