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在首次出现糖尿病酮症酸中毒时初步诊断为吉特曼综合征。

Gitelman Syndrome Provisionally Diagnosed During the First Presentation of Diabetic Ketoacidosis.

作者信息

Jalalzadeh Mojgan, Garcia Goncalves de Brito David, Chaudhari Shobhana, Poor Armeen D, Baumstein Donald

机构信息

Internal Medicine/Nephrology, Metropolitan Hospital Center, New York Medical College, New York, USA.

Anesthesiology, Metropolitan Hospital Center, New York Medical College, New York, USA.

出版信息

Cureus. 2021 Apr 2;13(4):e14253. doi: 10.7759/cureus.14253.

Abstract

Gitelman syndrome (GS) is an autosomal recessive disease characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. It is caused by mutations in gene SLC12A3 (located in chromosome 16q) encoding NaCl cotransporter. GS is usually asymptomatic for several years and is diagnosed in late childhood or adulthood. The association between GS and diabetic ketoacidosis (DKA) is rare. We present a case of a 25-year-old man with newly diagnosed diabetes mellitus and DKA with profound hypokalemia and hypomagnesemia who was provisionally found to have GS.

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、代谢性碱中毒和低钙尿症。它由编码氯化钠协同转运蛋白的SLC12A3基因(位于16号染色体长臂)突变引起。GS通常数年无症状,在儿童晚期或成年期被诊断出来。GS与糖尿病酮症酸中毒(DKA)之间的关联很罕见。我们报告一例25岁新诊断为糖尿病和DKA的男性病例,该患者伴有严重低钾血症和低镁血症,初步检查发现患有GS。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a3e/8088595/ad7baa71523b/cureus-0013-00000014253-i01.jpg

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