GITELMAN SYNDROME

Course overview

GITELMAN SYNDROME IS A SALT-LOSING TUBULOPATHY CAUSED BY MUTATION OF GENES ENCODING SODIUM CHLORIDE (NCCT) AND MAGNESIUM TRANSPORTERS IN THE THIAZIDE-SENSITIVE SEGMENTS OF THE DISTAL NEPHRON. IT IS CHARACTERIZED BY RENAL POTASSIUM WASTING, HYPOKALEMIA, METABOLIC ALKALOSIS, HYPOCALCIURIA, HYPOMAGNESEMIA, AND HYPERRENINEMIC HYPERALDOSTERONISM. GITELMAN SYNDROME IS ALSO REFERRED TO AS FAMILIAL HYPOKALEMIA-HYPOMAGNESEMIA. THIS ACTIVITY HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN MANAGING PATIENTS WITH GITELMAN SYNDROME TO PROVIDE THE BEST PATIENT OUTCOMES.