Chronic Musculoskeletal Pain as an Initial Presentation of Gitelman Syndrome in Adulthood: A Case Report

Gitelman syndrome is an autosomal recessive salt-wasting tubulopathy characterized by hypokalemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It may present in adulthood with nonspecific symptoms including cramps, fatigue and musculoskeletal complaints. We report the case of a 34-year-old male electrical engineer with a three-year history of low back pain, neck and shoulder pain, and radiculopathy. His spinal history is briefly noted as contextual. He was found to have persistent hypokalemia (serum K⁺ ~2.9-3.4 mmol/L), hypomagnesaemia (serum Mg²⁺ ~0.97-1.16 mmol/L), metabolic alkalosis (serum HCO₃⁻ ~28-31 mmol/L, arterial blood gas pH ~7.49) and low urinary fractional excretion of calcium (FECa ~0.002). Work-up excluded other causes of potassium and magnesium wasting; normal blood pressure was noted. A clinical diagnosis of Gitelman syndrome was made. Management included counselling regarding a high-sodium diet together with potassium-rich and magnesium-rich foods, supplementation of potassium and magnesium, and planned initiation of eplerenone and sodium chloride supplementation. We discuss the pathophysiology of Gitelman syndrome, its typical biochemical profile, differential diagnosis (including Bartter syndrome), the relevance of the patient’s musculoskeletal pain in the setting of electrolyte imbalance, and therapeutic considerations. This case underscores the importance of considering Gitelman syndrome in adults presenting with persistent hypokalemia, hypomagnesaemia and metabolic alkalosis, even when musculoskeletal symptoms dominate the presentation. Early recognition allows targeted therapy, potentially improving quality of life.