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吉特林综合征患者的妊娠结局:一例报告

Outcome of pregnancy in a patient with Gitelman syndrome: a case report.

作者信息

Talaulikar Girish S, Falk Michael C

机构信息

Department of Nephrology, The Canberra Hospital, Canberra, Australia.

出版信息

Nephron Physiol. 2005;101(2):p35-8. doi: 10.1159/000086418. Epub 2005 Jun 20.

Abstract

Gitelman syndrome (GS) is an autosomal-recessive condition characterized by hypokalaemia, hypomagnesaemia and hypocalciuria. Though it affects women of child-bearing age very little information is available about its impact on maternal and fetal outcome. We describe the course of pregnancy in a patient with GS which was characterized by a sixfold increase in potassium and magnesium requirements with inability to achieve normal levels despite intravenous supplementation. There was no adverse impact on the course of pregnancy or fetal outcome. The case highlights the variability in the phenotypic presentation of GS and recommends frequent monitoring of electrolytes with supplementation guided by clinical requirements without aiming to achieve normal blood levels.

摘要

吉特曼综合征(GS)是一种常染色体隐性疾病,其特征为低钾血症、低镁血症和低钙尿症。尽管它对育龄女性影响较小,但关于其对母婴结局影响的信息却很少。我们描述了一名患有GS的患者的妊娠过程,其特点是钾和镁的需求量增加了六倍,尽管进行了静脉补充,但仍无法达到正常水平。对妊娠过程或胎儿结局没有不良影响。该病例突出了GS表型表现的变异性,并建议根据临床需求进行频繁的电解质监测,并在补充时以临床需求为指导,而不是旨在达到正常的血液水平。

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