Nephrology Division, Department of Internal Medicine, University of Utah Health, Salt Lake City, USA.
BMC Nephrol. 2024 Nov 9;25(1):403. doi: 10.1186/s12882-024-03801-w.
Gitelman Syndrome (GS) is a rare autosomal-recessive tubular disorder characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, hyperreninemic hyperaldosteronism, and normotension. Management of GS during pregnancy is particularly challenging due to pregnancy-associated renal physiological changes and due to controversial safety profiles regarding teratogenicity of medications commonly used for GS management in non-pregnant patients. We report a case of a 20-year-old female patient diagnosed of GS who was treated with amiloride during pregnancy and lactation due to persistent hypokalemia resistant to oral supplementation therapy. Use of amiloride facilitated control of hypokalemia and hypomagnesemia in the mother without causing any noticeable side effects in the newborn.
Gitelman 综合征（GS）是一种罕见的常染色体隐性肾小管疾病，其特征为低钾血症、低镁血症、代谢性碱中毒、肾素-血管紧张素醛固酮系统亢进和血压正常。由于妊娠相关的肾脏生理变化，以及用于非妊娠患者 GS 管理的药物的致畸性安全性特征存在争议，妊娠期间 GS 的管理极具挑战性。我们报告了一例 20 岁女性患者的病例，该患者被诊断为 GS，由于口服补充治疗抵抗，持续性低钾血症，在妊娠和哺乳期使用了氨氯吡咪。氨氯吡咪的使用有助于控制母亲的低钾血症和低镁血症，而在新生儿中没有引起任何明显的副作用。
