From bench to bedside: Diagnosis of Gitelman's syndrome - defect of sodium-chloride cotransporter in renal tissue

Patient 1: A 16-year-old woman was admitted owing to an acute onset of both lower extremity paralysis lasting for 5 h. Her past medical history and family history were unremarkable. She denied taking herbal medicine, diuretics, or laxatives. She appeared ill-looking and her blood pressure was 110/80 mm Hg. Neurologic examination revealed impaired sensation and decreased motor power, grade 1/5 in both lower extremities, and grade 3/5 in both upper extremities. The rest of the physical examination was normal. Initial laboratory findings revealed hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria ( Table 2). Patient 2: A 24-year-old woman was admitted because of cramps and paralysis of four extremities for 2 h, preceded by a dry cough, fever, and myalgia, which began 1 day before admission. Her past medical history and family history were unremarkable. She denied taking herbal medicine, diuretics, or laxatives. Her blood pressure was 110/70 mm Hg. Neurologic examination revealed grade 0-1/5 motor power and impaired sensation were detected in all four extremities. Initial laboratory findings revealed hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria ( Table 2). The clinical presentations and initial laboratory data of the above patients are summarized in Tables 1 and 2.