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吉特曼综合征与妊娠:新的潜在病理生理影响因素、治疗方法及母婴结局

Gitelman's syndrome and pregnancy: new potential pathophysiological influencing factors, therapeutic approach and materno-fetal outcome.

作者信息

Calò Lorenzo A, Caielli Paola

机构信息

Department of Clinical and Experimental Medicine, University of Padova, Padova, Italy.

出版信息

J Matern Fetal Neonatal Med. 2012 Aug;25(8):1511-3. doi: 10.3109/14767058.2011.629254. Epub 2011 Nov 7.

Abstract

In the last twenty years the knowledge of biochemical, hormonal and molecular abnormalities of Gitelman's syndrome, the most common phenotype of inherited hypokalemic salt losing renal tubular disorders, is increased in the medical community. In parallel with the increasing number of adult population affected by the syndrome and the remarkable improvement of its management, pregnancy have become an important issue for patients affected and their physicians. There are, however, few reports of pregnancies in Gitelman's patients. We review here the cases of pregnancies in Gitelman's patients reported in literature and report three more cases from our cohort of Gitelman's patients, giving particular attention to the materno-fetal outcome and therapeutic approach. The possible influences on pregnancy of Gitelman's patient of other main hemodynamic, hormonal and molecular features of Gitelman's syndrome such as cardiovascular hyporesponsiveness, abnormal vascular tone regulation, upregulation of nitric oxide and Angiotensin 1-7 systems with their possible influence on the reported alteration of cardiac rhythm and function, are also considered.

摘要

在过去二十年中,医学领域对吉特曼综合征(Gitelman's syndrome)的生化、激素及分子异常的认识有所增加,吉特曼综合征是遗传性低钾性失盐性肾小管疾病最常见的表型。随着受该综合征影响的成年人口数量增加以及其治疗方法的显著改善,妊娠已成为受影响患者及其医生面临的一个重要问题。然而,关于吉特曼综合征患者妊娠的报道很少。我们在此回顾文献中报道的吉特曼综合征患者妊娠病例,并报告我们的吉特曼综合征患者队列中的另外三例病例,特别关注母婴结局和治疗方法。我们还考虑了吉特曼综合征的其他主要血流动力学、激素和分子特征对妊娠的可能影响,如心血管反应性降低、血管张力调节异常、一氧化氮和血管紧张素1 - 7系统上调及其对所报道的心律和功能改变的可能影响。

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