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：

6116043

负责人：

MARGARET J BIA

金额：

$3.45万

依托单位：

YALE UNIVERSITY

依托单位国家：

美国

项目类别：

财政年份：

1998

资助国家：

美国

项目状态：

已结题

起止时间：

1998-12-01 至 1999-11-30

来源：

https://reporter.nih.gov/project-details/6116043

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

我们正在研究遗传性低钾血症和低镁血症、巴特尔综合征和吉特尔曼综合征的分子遗传学。该研究的目的是确定导致Bartter综合征和Gitelman综合征表型的基因，并确定受影响患者亲属中的任何表型异常。本方案的目的是招募Bartter's和Gitelman's综合征患者，不明原因的持续性低钾血症和/或低镁血症患者以及相关家庭成员，以便进行此类研究。我们在GCRC中招募了20名患者进行急躁评估，并招募了90名患者进行门诊实验室评估。这些数字包括受影响的患者及其未受影响的家庭成员。我们继续招募更多的指示病例及其家属。

英文摘要

We are studying the molecular genetics of inherited hypokalemia and hypomagnesemia, Bartter's and Gitelman's syndromes. The goal of the study is to identify the gene(s) responsible for the phenotype of Bartter's and Gitelman's syndromes and define any phenotypic abnormalities in the relatives of affected patients. The objective of this protocol is to recruit patients with Bartter's and Gitelman's syndomes, patients with unexplained, persistent hypokalemia and/or hypomagnesemia, and related family members in order to permit such studies. We have enrolled 20 patients for impatient evaluation in the GCRC and have enrolled 90 patients for outpatient laboratory evaluation. These numbers include affected patients as well as their unaffected family members. We continue to recruit additional index cases and their family members.

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