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一例继发型甲状旁腺功能亢进继发高钙血症的吉特曼综合征病例。

A Case of Gitelman Syndrome with Hypercalcemia Secondary to Primary Hyperparathyroidism.

作者信息

Alnahas Zeinab, Markov Marko, Horani Mohamad H

机构信息

Department of Internal Medicine, Cairo University, Cairo 11956, Egypt.

Chandler Regional Medical Center, Chandler 85224, Arizona, USA.

出版信息

Case Rep Endocrinol. 2022 Jun 25;2022:1098222. doi: 10.1155/2022/1098222. eCollection 2022.

DOI:10.1155/2022/1098222
PMID:35795477
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9252710/
Abstract

Gitelman syndrome is a rare autosomal recessive salt-losing tubulopathy characterized by hypokalemia, hypomagnesemia, hypocalciuria, and secondary hyperaldosteronism. However, hypercalcemia secondary to hypocalciuria is extremely rare during the disease. A 36-year-old normotensive man who suffered a motor vehicle accident was presented with hypokalemia, hypomagnesemia, and mild hypercalcemia. He had a past medical history significant for bipolar depression disorder and a history of chronic atrial fibrillation. He was diagnosed with Gitelman syndrome. However, he was noncompliant with his medications. A laboratory workup revealed hypokalemia, hypomagnesemia, hypercalcemia, and a high parathyroid hormone level. Thorough investigations identified primary hyperparathyroidism as the primary cause of hypercalcemia. To our knowledge, Gitelman syndrome and primary hyperparathyroidism are an extremely rare association that is present in our case.

摘要

吉特林综合征是一种罕见的常染色体隐性遗传性失盐性肾小管病,其特征为低钾血症、低镁血症、低钙尿症和继发性醛固酮增多症。然而,在该疾病过程中,由低钙尿症继发的高钙血症极为罕见。一名36岁血压正常的男性在遭遇机动车事故后出现低钾血症、低镁血症和轻度高钙血症。他既往有双相情感障碍病史和慢性心房颤动病史。他被诊断为吉特林综合征。然而,他未遵医嘱服药。实验室检查显示低钾血症、低镁血症、高钙血症和甲状旁腺激素水平升高。全面检查确定原发性甲状旁腺功能亢进是高钙血症的主要原因。据我们所知,吉特林综合征和原发性甲状旁腺功能亢进极为罕见地同时出现在我们的病例中。

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Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.基于基因组数据库,按种族检查 Gitelman 综合征的预测患病率。
Sci Rep. 2021 Aug 9;11(1):16099. doi: 10.1038/s41598-021-95521-6.
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Primary Hyperparathyroidism.原发性甲状旁腺功能亢进症
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Primary hyperparathyroidism.原发性甲状旁腺功能亢进症
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