甲状旁腺机能减退
钙敏感受体
肾钙质沉着症
高钙尿症
内分泌学
内科学
钙
错义突变
维生素D与神经学
受体
骨化三醇受体
钙代谢
生物
医学
基因
突变
遗传学
肾
作者
Tomoyuki Watanabe,Masanori Minagawa
出处
期刊:PubMed
日期:2002-02-01
卷期号:60 (2): 331-7
被引量:3
摘要
The cloning of the extracellular calcium-sensing receptor(CaSR) has helped to define a key component in the control of the calcium homeostasis. Gain-of-function mutations in the CaSR gene were identified as the cause of autosomal dominant hypocalcemia (ADH). This clinical condition is compatible with hypoparathyroidism because of low PTH levels compared with serum calcium levels. Until now, 21 missense mutations of the CaSR were identified as a cause of hypoparathyroidism (HP). Mutations present in transmembrane domain may produce more severe hypocalcemia than those present in other domains. We emphasize that it is important to differentiate ADH from PTH-deficient HP, because treatment with vitamin D to correct the hypocalcemia in the former may lead to more severe hypercalciuria, nephrocalcinosis, and renal impairment.
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