Study Status: Completed
Recruit Status: Completed
Study Type: Interventional
Official Title: A Translational Approach to Gitelman Syndrome
Brief Summary:
The purpose of this study is to test the hypothesis that Gitelman syndrome (GS) can be diagnosed using a simple clinical protocol. GS is an inherited kidney disease that usually shows up in patients as low blood potassium levels. Currently, no commercial genetic test for GS exists. Currently, GS is diagnosed based upon clinical findings but this method is not precise and often not reliable. Thus, in order to develop new treatments specific for GS patients, a more exact method of diagnosis would be of benefit.
Eligible subjects are men and women ages 21-60 with normal blood pressure who have been diagnosed with low blood potassium of uncertain cause. Subjects may withdraw at any time.
This study requires 3 visits to OHSU's campus. Study Visit 1 will occur during a normal visit with the nephrologist. As part of the normal visit, a complete interview, physical exam and urine and blood samples will be taken. In addition, another blood sample will be taken and used for genetic analysis. A urine pregnancy test will be administered. A Quality of Life survey, described below, will be administered. The genetic analysis, urine pregnancy test and Quality of Life survey are not normal tests for GS. Blood and urine samples, as well as pregnancy tests will be collected/administered at the Oregon Clinical and Translational Research Institute (OCTRI).
During the intervention period, subjects will refrain from taking their potassium sparing medications for 7 days. This period is called the washout period and is needed to ensure that blood tests during the hydrochlorthiazide (HCTZ, a "water pill") (see below), are not affected by medications. On the 3rd day of the washout period, Study Visit 2 will occur at the OCTRI. This will require blood to be drawn, to insure that subjects mai