钙敏感受体
巴特综合征
内分泌学
内科学
巴特综合征
重吸收
代谢性碱中毒
受体
钙
医学
低钾血症
甲状旁腺激素
化学
生物
肾
作者
Shigekazu Watanabe,Seiji Fukumoto,Hangil Chang,Yasuhiro Takeuchi,Yukihiro Hasegawa,Ryo Okazaki,Noriko Chikatsu,Toshiro Fujita
出处
期刊:The Lancet
[Elsevier]
日期:2002-08-01
卷期号:360 (9334): 692-694
被引量:381
标识
DOI:10.1016/s0140-6736(02)09842-2
摘要
Bartter's syndrome is a heterogeneous disorder characterised by deficient renal reabsorption of sodium and chloride, and hypokalaemic metabolic alkalosis with hyper-reninaemia and hyperaldosteronaemia. Mutations in several ion transporters and channels have been associated with the pathogenesis of Bartter's syndrome. We describe two hypocalcaemic patients with deficient parathyroid hormone secretion who also showed characteristics of Bartter's syndrome. We found activating mutations of the gene for the calcium-sensing receptor (CASR) in both patients. Activation of this calcium-sensing receptor inhibits the activity of a renal outer-medullary potassium channel that is mutated in type 2 Bartter's syndrome. We therefore suggest that some activating mutations of CASR could provide new mechanisms for the development of Bartter's syndrome.
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