非格列酮:治疗吉特曼综合征的新方法:一名患有肾上腺肿块和低钾血症的 35 岁男性的病例研究。

IF 1 Q3 MEDICINE, GENERAL & INTERNAL
Rujie Jiang, Qiue Liu, Yanan Sun, Xiaoqing Dai, Feng Xu, Fang Wang
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引用次数: 0

摘要

背景吉特曼综合征(GS)是一种常染色体隐性遗传的失盐性肾小管病变,其特征为肾钾丢失、低钾血症、代谢性碱中毒、低钙尿症、低镁血症和高肾上腺素血症性高醛固酮症。非格列酮(Finerenone)是一种非甾体类矿物皮质激素受体拮抗剂,可抑制受体介导的钠重吸收,降低受体过度激活。本报告描述了一名 35 岁男子的病例,他患有低钾血症,右侧肾上腺有肿块,被诊断为 SLC12A3 基因 c.1456>A 杂合子变异的吉特曼综合征,并接受了非格列酮治疗。病例报告 一名 35 岁男子因右侧肾上腺肿块入住青岛大学附属医院。他入院时一般情况良好。他不吸烟、不喝酒。入院检查诊断为严重低钾血症。基因检测显示,他携带 SLC12A3 的同卵致病变体 c.1456>A,这可以确诊为吉特曼综合征。他曾使用螺内酯来提高血钾水平,但在发现不良反应后,又使用了非格列酮,这大大改善了他的血钾水平。结论 对于不能耐受使用非选择性促矿物质皮质激素受体拮抗剂产生的性激素相关不良反应等不良反应的吉特曼综合征患者,尤其是男性患者,可以考虑使用非奈酮作为钾潴留和镁补充的辅助疗法。据我们所知,这是世界上第一例使用非格列酮治疗吉特曼综合征的报告。这为今后治疗患者提供了更多选择。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Finerenone as a Novel Treatment for Gitelman Syndrome: A Case Study of a 35-Year-Old Male with Adrenal Mass and Hypokalemia.

BACKGROUND Gitelman syndrome (GS) is an autosomal recessive salt-losing tubulopathy characterized by renal potassium loss, hypokalemia, metabolic alkalosis, hypocalciuria, hypomagnesemia, and hyper-reninemic hyperaldosteronism. Finerenone is a non-steroidal mineralocorticoid receptor antagonist that inhibits receptor-mediated sodium reabsorption and decreases receptor overactivation. This report describes a 35-year-old man with hypokalemia, a mass in the right adrenal gland, and a diagnosis of Gitelman syndrome with a c.1456>A heterozygous variant of the SLC12A3 gene, treated with finerenone. CASE REPORT A 35-year-old man was admitted to the affiliated Hospital of Qingdao University because of a mass in the right adrenal gland. He was in generally good condition upon admission. He was a non-smoker and non-drinker. The examination at admission led to diagnosis of severe hypokalemia. Genetic tests showed that he carried a homozygous pathogenic variant c.1456>A in SLC12A3, which can confirm the diagnosis of Gitelman syndrome. Spironolactone was used to increase the blood potassium level, but after adverse effects were noted, finerenone was used, which greatly improved his blood potassium levels. CONCLUSIONS For patients with Gitelman syndrome who cannot tolerate adverse effects such as sex hormone-related adverse reactions from using non-selective mineralocorticoid receptor antagonists, especially male patients, finerenone may be considered as an adjunct therapy for potassium retention and magnesium supplementation. To the best of our knowledge, this is the first report in the world of using finerenone to treat Gitelman syndrome. This provides more options for treatment of patients in the future.

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来源期刊
American Journal of Case Reports
American Journal of Case Reports Medicine-Medicine (all)
CiteScore
1.80
自引率
0.00%
发文量
599
期刊介绍: American Journal of Case Reports is an international, peer-reviewed scientific journal that publishes single and series case reports in all medical fields. American Journal of Case Reports is issued on a continuous basis as a primary electronic journal. Print copies of a single article or a set of articles can be ordered on demand.
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