BACKGROUND: Gitelman syndrome is a rare autosomal recessive disorder that presents in early adulthood with fatigue, muscle cramps and electrolyte abnormalities. CASE: A 17-year-old African-American woman presented at ...BACKGROUND: Gitelman syndrome is a rare autosomal recessive disorder that presents in early adulthood with fatigue, muscle cramps and electrolyte abnormalities. CASE: A 17-year-old African-American woman presented at 17 weeks of pregnancywith nausea, emesis, profound lower extremity proximal muscle weakness, hypokalemia, and hypomagnesemia. After a thorough evaluation, Gitelman syndrome was diagnosed. The patient was maintained on high levels of potassium and magnesium supplementation throughout the rest of her pregnancy and delivered a healthy infant. CONCLUSION: In pregnancy, nausea and emesis is most commonly attributed to hyperemesis gravidarum. However, an atypical presentation of these symptoms and/or the coexistence of less common complaints warrant further investigation.展开更多
文摘BACKGROUND: Gitelman syndrome is a rare autosomal recessive disorder that presents in early adulthood with fatigue, muscle cramps and electrolyte abnormalities. CASE: A 17-year-old African-American woman presented at 17 weeks of pregnancywith nausea, emesis, profound lower extremity proximal muscle weakness, hypokalemia, and hypomagnesemia. After a thorough evaluation, Gitelman syndrome was diagnosed. The patient was maintained on high levels of potassium and magnesium supplementation throughout the rest of her pregnancy and delivered a healthy infant. CONCLUSION: In pregnancy, nausea and emesis is most commonly attributed to hyperemesis gravidarum. However, an atypical presentation of these symptoms and/or the coexistence of less common complaints warrant further investigation.
