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持续性严重低钾血症:吉特曼综合征及鉴别诊断。

Persistent severe hypokalemia: Gitelman syndrome and differential diagnosis.

作者信息

Molin Christine Zomer Dal, Trevisol Daisson José

机构信息

Universidade do Sul de Santa Catarina.

Hospital Nossa Senhora da Conceição.

出版信息

J Bras Nefrol. 2017 Jul-Sep;39(3):337-340. doi: 10.5935/0101-2800.20170058.

DOI:10.5935/0101-2800.20170058
PMID:29044344
Abstract

The main causes of hypokalemia are usually evident in the clinical history of patients, with previous episodes of vomiting, diarrhea or diuretic use. However, in some patients the cause of hypokalemia can become a challenge. In such cases, two major components of the investigation must be performed: assessment of urinary excretion potassium and the acid-base status. This article presents a case report of a patient with severe persistent hypokalemia, complementary laboratory tests indicated that's it was hypomagnesaemia and hypocalciuria associated with metabolic alkalosis, and increase of thyroid hormones. Thyrotoxic periodic paralysis was included in the differential diagnosis, but evolved into euthyroid state, persisting with severe hypokalemia, which led to be diagnosed as Gitelman syndrome.

摘要

低钾血症的主要病因通常在患者的临床病史中很明显,有既往呕吐、腹泻或使用利尿剂的发作史。然而,在一些患者中,低钾血症的病因可能成为一个挑战。在这种情况下,必须进行两项主要的检查:评估尿钾排泄和酸碱状态。本文介绍了一例严重持续性低钾血症患者的病例报告,补充实验室检查表明是与代谢性碱中毒相关的低镁血症和低钙尿症,以及甲状腺激素升高。鉴别诊断中包括甲状腺毒症性周期性麻痹,但病情发展为甲状腺功能正常状态,严重低钾血症持续存在,最终被诊断为吉特林综合征。

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引用本文的文献

1
Adult-Onset Gitelman Syndrome: Case Analysis and Literature Review.成人起病型吉特林综合征:病例分析与文献综述
Case Rep Med. 2025 Jul 31;2025:2647228. doi: 10.1155/carm/2647228. eCollection 2025.
2
Gitelman Syndrome: A Rare Cause of Seizure Disorder and a Systematic Review.吉特林综合征:癫痫发作障碍的罕见病因及系统评价
Case Rep Med. 2019 Feb 5;2019:4204907. doi: 10.1155/2019/4204907. eCollection 2019.
3
A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia.一种新型 Gitelman 综合征伴低钙血症的 SLC12A3 纯合子 c2039delG 突变。
BMC Nephrol. 2018 Dec 17;19(1):362. doi: 10.1186/s12882-018-1163-3.
4
Hypokalemia: a clinical update.低钾血症:临床最新进展
Endocr Connect. 2018 Apr;7(4):R135-R146. doi: 10.1530/EC-18-0109. Epub 2018 Mar 14.