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基因突变的醛固酮瘤手术后原发性醛固酮增多症的复发

Recurrence of Primary Aldosteronism After Surgery in Aldosterone-producing Adenoma With Gene Mutation.

作者信息

Aiga Ko, Kometani Mitsuhiro, Aono Daisuke, Yoneda Takashi

机构信息

Department of Health Promotion and Medicine of Future, Kanazawa University Graduate School of Medicine, Kanazawa, Ishikawa 920-8641, Japan.

出版信息

JCEM Case Rep. 2023 Jan 11;1(1):luac032. doi: 10.1210/jcemcr/luac032. eCollection 2023 Jan.

Abstract

Primary aldosteronism (PA) is a major cause of secondary hypertension. Aldosterone-producing adenoma (APA) is a subtype of PA, and adrenalectomy is the gold-standard treatment. Recently, a high prevalence of the gene mutation has been reported in APA, particularly in Japan. Herein, we present 2 extremely rare cases of PA recurrence more than 10 years after adrenalectomy for APA. In the first case, a 52-year-old woman was examined for hypertension 22 years after total adrenalectomy of the right adrenal gland. Recurrent PA was diagnosed based on high aldosterone-renin-ratio (ARR), identification of left adrenal gland tumor by computed tomography (CT), and a confirmatory test. In the second case, a 65-year-old man was examined for hypertension 17 years after total adrenalectomy of the left adrenal gland. He had maintained his blood pressure using medication since the onset of hypertension 4 years after the surgery. A year later, a high ARR was observed. PA recurrence was determined by a right adrenal gland tumor noted on CT and a confirmatory test. Somatic mutations in were detected in the resected tissues in both cases. We recommend careful follow-ups after adrenalectomy in APA cases, especially in those with a gene mutation.

摘要

原发性醛固酮增多症(PA)是继发性高血压的主要病因。醛固酮瘤(APA)是PA的一种亚型,肾上腺切除术是其金标准治疗方法。最近,有报道称APA中该基因突变的发生率很高,尤其是在日本。在此,我们报告2例极为罕见的病例,患者在因APA接受肾上腺切除术后10多年出现PA复发。第一例中,一名52岁女性在右侧肾上腺全切术后22年因高血压接受检查。根据高醛固酮-肾素比值(ARR)、通过计算机断层扫描(CT)发现左侧肾上腺肿瘤以及确诊试验,诊断为复发性PA。第二例中,一名65岁男性在左侧肾上腺全切术后17年因高血压接受检查。自手术后4年高血压发病以来,他一直通过药物控制血压。一年后,观察到高ARR。通过CT发现右侧肾上腺肿瘤以及确诊试验确定为PA复发。在这两例患者的切除组织中均检测到该基因的体细胞突变。我们建议对APA病例,尤其是那些有该基因突变的患者,在肾上腺切除术后进行仔细随访。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c5e/10578383/c3c946d24aa5/luac032f1.jpg

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