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费乐那酮治疗 Gitelman 综合征 1 例报告:35 岁男性肾上腺肿块伴低钾血症

Finerenone as a Novel Treatment for Gitelman Syndrome: A Case Study of a 35-Year-Old Male with Adrenal Mass and Hypokalemia.

机构信息

Department of Endocrinology, Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.

出版信息

Am J Case Rep. 2024 Nov 3;25:e944492. doi: 10.12659/AJCR.944492.

Abstract

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.

摘要

背景

Gitelman 综合征(GS)是一种常染色体隐性遗传性盐丢失管状病,其特征为肾脏钾丢失、低钾血症、代谢性碱中毒、钙尿症、低镁血症和肾素依赖性醛固酮增多症。非奈利酮是一种非甾体类盐皮质激素受体拮抗剂,可抑制受体介导的钠重吸收并减少受体过度激活。本报告描述了一名 35 岁男性,因低钾血症、右侧肾上腺肿块,以及 SLC12A3 基因 c.1456>A 杂合变异,被诊断为 Gitelman 综合征,接受非奈利酮治疗。

病例报告

一名 35 岁男性因右侧肾上腺肿块而入住青岛大学附属医院。入院时一般情况良好,不吸烟,不饮酒。入院检查诊断为严重低钾血症。基因检测显示,他携带 SLC12A3 基因 c.1456>A 纯合致病性变异,可确诊 Gitelman 综合征。螺内酯用于提高血钾水平,但出现不良反应后,改用非奈利酮,大大提高了血钾水平。

结论

对于不能耐受非选择性盐皮质激素受体拮抗剂(如与性激素相关的不良反应)的 Gitelman 综合征患者,尤其是男性患者,非奈利酮可作为钾潴留和镁补充的辅助治疗。据我们所知,这是世界上首次报告使用非奈利酮治疗 Gitelman 综合征。这为未来患者的治疗提供了更多选择。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d38/11542730/b1620de38e16/amjcaserep-25-e944492-g001.jpg

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