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妊娠期利德尔综合征的管理:一例病例报告及文献综述

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

作者信息

Awadalla Michael, Patwardhan Manasi, Alsamsam Adham, Imran Nashat

机构信息

Department of Obstetrics and Gynecology, Wayne State University, Detroit Medical Center, Detroit, MI, USA.

Division of Nephrology and Hypertension, Department of Internal Medicine, Wayne State University, Detroit Medical Center, Detroit, MI, USA.

出版信息

Case Rep Obstet Gynecol. 2017;2017:6279460. doi: 10.1155/2017/6279460. Epub 2017 Mar 15.

Abstract

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.

摘要

利德尔综合征是一种常染色体显性遗传病,由于编码肾脏上皮钠通道的SCNN1B或SCNN1G基因发生功能获得性突变,导致高血压和低钾血症。这会导致钠和水的重吸收增加,从而引起高血压。我们报告了一例27岁的孕妇,她因高血压和低钾血症入院,后来被诊断为利德尔综合征并使用氨氯吡咪进行治疗。在这类病例中,孕期高度怀疑利德尔综合征对于能够充分有效地治疗高血压至关重要。由于妊娠的生理影响,随着孕周增加,氨氯吡咪的剂量可能需要增加,最大口服剂量为每天30毫克。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/72d0/5370477/02fd9a4999b8/CRIOG2017-6279460.001.jpg

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