Rare Case of Adult‐Onset Gitelman Syndrome in a Patient With Multiple Comorbidities: A Case Report
Abstract
Gitelman Syndrome (GS) is a renal tubulopathy transmitted in an autosomal recessive manner. Its primary cause is mutations Of SLC12A3 (Solute Carrier Family 12 Member 3) gene that encodes the sodium‐chloride co‐transporter and is characterized by hypokalemia, hypocalciuria, hypomagnesemia, and metabolic alkalosis. It appears in most cases in adolescents or early adulthood, but with end‐organ disease in later adulthood with other comorbid conditions. The patient was a 55‐year‐old woman with refractory electrolyte disturbances comprising low potassium, calcium, and metabolic alkalosis, history of NASH (non‐alcoholic steatohepatitis) cirrhosis, benzodiazepine poisoning, and gastric polyps. Persistent electrolyte abnormalities were most likely worsening renal failure before improvement with the addition of spironolactone. Urinary magnesium/creatinine ratios above 1 were indicative of GS. Electrolyte imbalances were recurring in both her and her late mother, which even existed throughout her childhood. Persistent electrolyte abnormalities in this patient's chronic NASH cirrhosis would probably worsen due to secondary hyperaldosteronism. Supplementation of potassium, calcium, and magnesium failed to address the refractory hypokalemia and hypocalcemia, and hypomagnesemia. So spironolactone was initiated, which resulted in a successful resolution of the condition. Clinical diagnosis of GS made based on biochemical markers due to an existing strong familial pattern of similar…
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