低钾血症患者钾稳态的评估-猫眼课题宝

低钾血症患者钾稳态的评估

批准号：

6277277

负责人：

MARGARET J BIA

金额：

$2.8万

依托单位：

YALE UNIVERSITY

依托单位国家：

美国

项目类别：

财政年份：

1997

资助国家：

美国

项目状态：

已结题

起止时间：

1997-12-01 至 1998-11-30

来源：

https://reporter.nih.gov/project-details/6277277

关键词：

Bartter's syndrome body fluid balance therapy bone density bone metabolism calcium clinical research disease /disorder etiology diuretics gene mutation homeostasis human subject hypokalemia kidney metabolism magnesium metal metabolism potassium sodium

中文摘要

翻译

本方案的目的是评估本病的病因和治疗。维持这一问题的患者中的低钾血症没有明显的引起并描述肾脏对钠、钾、遗传性骨质疏松症患者亲属的镁、钙确诊为吉特尔曼综合征或巴特综合征。具体地说，我们想要检验的假设是杂合子吉特尔曼或巴特突变的亲属更容易患上利尿剂引起的低钾血症。我们还在评估骨骼金枪鱼/骨骼所有这些个体的密度。到目前为止，我们已经在住院方面登记了16名家属(10名杂合子和6个家系对照)。用于实验室和遗传学经过测试，我们已经招募了117名大家庭成员和26名成员受吉特尔曼综合征影响的成员。

英文摘要

The aims of this protocol are to evaluate the cause and treatment of hypokalemia in patients who maintain this problem without an obvious cause and to characterize the renal handling of sodium, potassium, magnesium and calcium in relatives of patients with genetically confirmed Gitelman's or Bartter's Syndrome. Specifically, we would like to test the hypothesis that heterozygote relatives for Gitelman's or Bartter's mutations are more susceptible to diuretic-induced hypokalemia. We are also evaluating bone tunnover/bone density in all these individuals. To date, we have enrolled 16 family members on the in-patient side (10 heterozygotes and 6 family controls). For laboratory and genetic testing, we have recruited 117 members of an extended family with 26 members affected with Gitelman's syndrome.

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