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 GITLEMAN’S SYNDROME AND FAMILIAL HYPOKALEMIA-HYPOMAGNESEMIA. THIS ACTIVITY DESCRIBES THE ETIOLOGY, EPIDEMIOLOGY, PATHOPHYSIOLOGY, PROGNOSIS AND MANAGEMENT ASPECTS OF GITELMAN SYNDROME