BACKGROUND Gitelman syndrome(GS)is an autosomal recessive salt-losing renal tubulopathy arising from mutations in the thiazide-sensitive Na-Cl cotransporter gene.Due to its low incidence and lack of awareness,GS can b...BACKGROUND Gitelman syndrome(GS)is an autosomal recessive salt-losing renal tubulopathy arising from mutations in the thiazide-sensitive Na-Cl cotransporter gene.Due to its low incidence and lack of awareness,GS can be easily misdiagnosed or missed in diagnosis.CASE SUMMARY A 24-year-old male presented with>4 years of repeated limb weakness without any treatment.The previous day,the patient was bitten by ants and showed weakness of the lower limbs.The patient had hypokalemia(1.66-2.83 mmol/L),hypomagnesemia(0.4 mmol/L),hypocalciuria(1.51-2.46 mmol/d),metabolic alkalosis(7.47-7.54),normal blood pressure,and increased activity of aldosterone and plasma renin activity(PRA)(PRA 6.4 and 16.45 ng/mL/h and aldosterone 330.64 and 756.82 pg/mL in the supine and upright position,respectively).In addition,SLCI2A3 gene mutation with GS was diagnosed.Oral and intravenous supplementation with potassium and magnesium was initiated.Serum magnesium returned to 0.48 mmol/L and serum potassium returned to 3.08 mmol/L,alleviating the patient’s fatigue symptoms.CONCLUSION GS should be considered in patients with hypokalemia complicated with hypomagnesemia.Genetic testing is essential to confirm the diagnosis.展开更多
文摘BACKGROUND Gitelman syndrome(GS)is an autosomal recessive salt-losing renal tubulopathy arising from mutations in the thiazide-sensitive Na-Cl cotransporter gene.Due to its low incidence and lack of awareness,GS can be easily misdiagnosed or missed in diagnosis.CASE SUMMARY A 24-year-old male presented with>4 years of repeated limb weakness without any treatment.The previous day,the patient was bitten by ants and showed weakness of the lower limbs.The patient had hypokalemia(1.66-2.83 mmol/L),hypomagnesemia(0.4 mmol/L),hypocalciuria(1.51-2.46 mmol/d),metabolic alkalosis(7.47-7.54),normal blood pressure,and increased activity of aldosterone and plasma renin activity(PRA)(PRA 6.4 and 16.45 ng/mL/h and aldosterone 330.64 and 756.82 pg/mL in the supine and upright position,respectively).In addition,SLCI2A3 gene mutation with GS was diagnosed.Oral and intravenous supplementation with potassium and magnesium was initiated.Serum magnesium returned to 0.48 mmol/L and serum potassium returned to 3.08 mmol/L,alleviating the patient’s fatigue symptoms.CONCLUSION GS should be considered in patients with hypokalemia complicated with hypomagnesemia.Genetic testing is essential to confirm the diagnosis.
