Gitelman Syndrome · What It Is, Causes, Treatment, and More

The signs and symptoms of Gitelman syndrome typically mimic the effects of persistent thiazide diuretic use (e.g., hydrochlorothiazide). These may include increased thirst (i.e., polydipsia) and salt cravings, caused by increased sodium excretion. Individuals may also experience an increased frequency of urination (i.e., polyuria) or an increased urge to urinate at night (i.e., nocturia). In some rare cases, an individual may develop low blood pressure (i.e., hypotension) due to excess sodium excretion.

Other electrolyte abnormalities caused by Gitelman syndrome, such as hypokalemia and hypomagnesemia, may lead to muscle weakness or tetany (i.e., muscle cramping). In addition to these symptoms, individuals may also experience nausea, vomiting, and abdominal pain. In more rare situations, cardiac arrhythmias may occur due to electrolyte disturbances.

Symptoms typically first appear in adolescents and adulthood but may sometimes present as early as childhood.

Gitelman is diagnosed through a variety of methods. Initially, the individual’s medical history and a thorough review of symptoms will be used to narrow down the diagnosis. Due to the genetic nature of the disease, other family members may have similar symptoms or be previously diagnosed. A physical exam may then be performed to assess for muscle cramps and weakness. Blood work may show hypokalemia (i.e., low potassium), hypomagnesemia (i.e., low magnesium), hypochloremia (i.e., low chloride), and hypercalcemia (i.e., elevated calcium). In addition, hypocalciuria (i.e., low urinary calcium) and elevated urinary chloride would further support a diagnosis of Gitelman. Lab work may also show high levels of renin (i.e hyperreninemia) and high levels of aldosterone (i.e hyperaldosteronemia) due to the body’s compensatory responses. Often, diagnosis of Gitelman syndrome relies on excluding other possible causes. A definitive diagnosis of Gitelman syndrome requires performing genetic testing to show the specific gene mutations.