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Management of Liddle Syndrome in Pregnancy: A Case Report and Literature Review

机译:妊娠中段综合征的处理:一例报告并文献复习

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摘要

Liddle syndrome is an autosomal dominant genetic condition that causes hypertension and hypokalemia due to a gain-of-function mutation in the SCNN1B or SCNN1G genes which code for the epithelial sodium channel in the kidney. This leads to increased sodium and water reabsorption causing hypertension. We report a case of a 27-year-old pregnant woman who was admitted for hypertension and hypokalemia and later diagnosed and treated for Liddle syndrome using amiloride. Maintaining a high suspicion of Liddle syndrome in pregnancy is essential in such cases to be able to adequately and effectively treat the hypertension. Due to physiological effects of pregnancy, the dose of amiloride may need to be increased as gestational age progresses up to a maximum dose of 30 mg orally per day.
机译:Liddle综合征是常染色体显性遗传病,由于编码肾上皮钠通道的SCNN1B或SCNN1G基因的功能获得性突变,导致高血压和低钾血症。这导致钠和水的重吸收增加,引起高血压。我们报告了一例27岁的孕妇,她因高血压和低血钾症入院,后来被阿米洛利诊断和治疗Liddle综合征。在这种情况下,必须高度怀疑孕妇患有Liddle综合征,才能充分有效地治疗高血压。由于怀孕的生理影响,随着胎龄的增加,每天口服阿米洛利的剂量可能需要增加至最大剂量30μmg。

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