Clinical Case of Successful Correction of Blood Electrolytes and Acid-Base Balance in Gitelman Syndrome

Abstract

Gitelman Syndrome (GS) is an autosomal-recessive disorder distinguished by hypokalemia, hypomagnesaemia, and hypocalciuria. Elderly people and women of childbearing age are highly affected by GC. There isn’t much evidence known about its effects on maternal and fetal outcomes. There is a high incidence of hypotension and unexpected cardiac arrest. Normal growth is generally seen in GS patients, but growth may be delayed in severe hypokalemia and hypomagnesemia. Surprisingly, some patients are asymptomatic at all, with the exception of chondrocalcinosis, which manifests in adults and causes swelling, localized heat, and joint tenderness. GS is caused by mutations in the thiazide-sensitive Na-Cl cotransporter gene. Due to its rarity and lack of knowledge, It is susceptible to misdiagnosis or being overlooked. In this case, the patient was suffering from recurrent hypokalemia, hypomagnesemia, hypochloraemia, and hypocalciuria with hypotension. After taking proper medication patients recovered slowly and during patient counseling provided diet chart by nutritionists to avoid recurrent electrolyte imbalance.