Gitelman综合征表现为手足搐搦症:一例报告

Z. Alam, A. Safdar, S. Hoque, Rownak Jahan Tamanna, Rowsan Ara, M. Khan
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引用次数: 0

摘要

Gitelman综合征是一种常染色体隐性遗传病,由远端小管噻嗪敏感氯化钠共转运体缺陷引起,以低镁血症、低钾性碱中毒和低钙尿症为特征。我们报告一例吉特曼综合征在44岁的女性患者谁提出了广泛性肌肉无力和腕痉挛和特征性电解质异常。这种情况有时与巴特氏综合征混淆。DOI: http://dx.doi.org/10.3329/imcj.v6i1.14724 Ibrahim Med. col。j . 2012;6 (1): 34-36
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Gitelman's Syndrome Presented with Tetany: A Case Report
Gitelman’s syndrome is an autosomal recessive disorder caused by a defect of the thiazide-sensitive sodium chloride co-transporter at the distal tubule, characterized by hypomagnesemia, hypokalemic alkalosis and hypocalciuria. We report a case of Gitlman’s syndrome in a 44 years old female patient who presented with generalized muscle weakness and carpal spasm and characteristic electrolyte abnormalities. This condition is sometimes confused with Bartter’s syndrome. DOI: http://dx.doi.org/10.3329/imcj.v6i1.14724 Ibrahim Med. Coll. J. 2012; 6(1): 34-36
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