Bartter's and Gitelman's syndromes: from gene to clinic.
Bartter's and Gitelman's syndromes: from gene to clinic.
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DOI：
10.1159/000076752
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发表时间：
2004-01-01
期刊：
影响因子：
--
通讯作者：
Kuypers, Dirk
中科院分区：
文献类型：
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作者：
Naesens, Maarten;Steels, Paul;Kuypers, Dirk
Bartter综合征和Gitelman综合征的特征是低钾血症、正常至低血压和低血糖性代谢紊乱。最近，研究人员已经能够证明编码几种肾小管转运蛋白和离子通道的六种基因的突变，这些基因可能与Bartter综合征和Gitelman综合征有关。新生儿Bartter综合征由NKCC 2或ROMK突变引起，经典Bartter综合征由ClC-Kb突变引起，Bartter综合征伴感音神经性耳聋由BSND突变引起，Gitelman综合征由NCCT突变引起，Bartter综合征伴常染色体显性低钙血症与CASR突变有关。我们回顾了这些综合征的病理生理与临床表现的关系。
Bartter's and Gitelman's syndromes are characterized by hypokalemia, normal to low blood pressure and hypochloremic metabolic alkalosis. Recently, investigators have been able to demonstrate mutations of six genes encoding several renal tubular transporters and ion channels that can be held responsible for Bartter's and Gitelman's syndromes. Neonatal Bartter's syndrome is caused by mutations of NKCC2 or ROMK, classic Bartter's syndrome by mutations of ClC-Kb, Bartter's syndrome associated with sensorineural deafness is due to mutations of BSND, Gitelman's syndrome to mutations of NCCT and Bartter's syndrome associated with autosomal dominant hypocalcemia is linked to mutations of CASR. We review the pathophysiology of these syndromes in relation to their clinical presentation.