A Challenging Case of Persisting Hypokalemia Secondary to Gitelman Syndrome

Abstract

There are several causes of hypokalemia, including transcellular shift, renal loss, gastrointestinal loss, and decreased oral intake. Sometimes it is challenging to know the source of the problem; however, with detailed history, physical examination, and appropriate laboratory investigations, the physician should be able to narrow down the differentials diagnosis to reach the right one. One of the rare causes of hypokalemia is Gitelman syndrome, which is a salt-losing tubulopathy that manifests as renal potassium wasting, metabolic alkalosis, hypokalemia, hypomagnesemia, hypocalciuria, and hyperreninemic hyperaldosteronism. This disorder is inherited in an autosomal recessive pattern with an incidence of 25 instances per million population. We report a challenging case of persistent hypokalemia in a 30-year-old woman who presented with a history of palpitation, bilateral upper and lower limbs numbness, nausea, diarrhea, and generalized fatigue for three days. After history and physical examination, the patient was diagnosed with an episode of enteritis, and laboratory workups revealed low potassium and magnesium levels, and it was thought that these electrolyte abnormalities were secondary to gastrointestinal loss. Therefore, the patient was mainly treated supportively along with potassium and magnesium replacement. However, after one week of replacement, the patient still had low potassium and magnesium levels in spite of being diarrhea-free, so renal loss was suspected. Urine electrolytes revealed high renal potassium loss with low-normal blood pressure, arterial blood gases revealed metabolic alkalosis with a pH of 7.49 and bicarbonate level of 29 mEq/L. Repeated urine chemistry was done to check for chloride level and turned out to be high, and 24-hour urinary excretion of calcium was very low. Therefore, the patient was diagnosed with Gitelman syndrome and was managed with potassium and magnesium replacements intravenously, and was encouraged to consume a diet rich in these electrolytes. After complete resolutions of the symptoms and correction of potassium and magnesium levels, the patient was discharged home in stable condition.

Keywords: case report; familial hypokalemia-hypomagnesemia; gitelman syndrome; hypokalemia; hypomagnesemia; metabolic alkalosis; renal salt wasting.