Asterixis as a rare manifestation of Gitelman syndrome. A case report

Background: Gitelman syndrome is a rare inherited tubulopathy characterized by mutations affecting sodium chloride and magnesium transport in the distal nephron. With an estimated prevalence of 1 in 40,000, it usually presents asymptomatically or with mild symptoms such as fatigue and muscle cramps, but can progress to severe complications such as hypokalemic paralysis and life-threatening arrhythmias. Diagnosis is often made incidentally through blood tests that reveal chronic hypokalemia and hypomagnesemia. This report details the case of a 35-year-old man with a history of type 2 diabetes and recent onset of symptoms such as asthenia and asterixis as the striking symptom. Initial testing revealed severe electrolyte imbalances such as hyponatremia, hypokalemia, and hypomagnesemia leading to hospitalization of our patient and suspicion of Gitelman syndrome. Liver pathology was ruled out. The patient was placed on electrolyte replacement therapy, but continued to suffer from hyponatremia. Biochemical and clinical criteria confirmed Gitelman syndrome, which was treated with oral sodium chloride and spironolactone, resulting in normalization of electrolyte levels and resolution of symptoms, highlighting the disappearance of asterixis. The patient was subsequently discharged home with follow-up to the nephrology outpatient clinic. This case highlights the importance of recognizing the subtle manifestations of Gitelman syndrome and the need for ongoing follow-up to mitigate complications. Ultimately, Gitelman syndrome can significantly impact patients’ quality of life, comparable to more commonly recognized chronic diseases. Regular follow-up in nephrology is crucial for effective treatment and prevention of long-term kidney damage. Keywords: Gitelman syndrome, asterixis.