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Updated: Jul 24, 2025

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ARMC5阴性初级双边上腺瘤性上腺增生
Bastiaan Sol1, Marilyn Carprieaux2, Nico De Leu3,4,5
1Endocrinology, AZ Alma Campus Eeklo, Eeklo, Belgium.
BMJ case reports
|July 7, 2023
概括
一个罕见的库希综合征病例是由女性双边上腺胀引起的. 手术切除上腺导致了显著的恢复,突出了这种情况及其治疗.
科学领域:
- 内分泌学 在内分泌学.
- 内部医学 内部医学
背景情况:
- 库希综合征是一种罕见的内分泌疾病,由长时间暴露于过多的皮质醇引起.
- 主要双边巨腺增生是内源性库希综合征的不常见原因,其特征是上腺腺腺体与结节的扩大.
研究的目的:
- 为了呈现一种内源性ACTH独立的库希综合征的病例,这是由于一次性双边巨腺增生症.
- 讨论这种罕见疾病的临床表现,诊断和管理.
主要方法:
- 一个60多岁的女性的临床病例介绍,她有库辛综合征的症状.
- 诊断工作包括血液和尿液分析,腹部成像和双边上腺切除术后的病理学.
- 为ARMC5基因突变进行遗传测序.
主要成果:
- 患者表现为慢性疲劳,情绪低落,近端肌肉虚弱,面部丰满,皮肤缩和脚胀.
- 诊断出内源性ACTH独立的库辛综合征.
- 在腎上腺切除術後,雙方巨性腎上腺增生病理上得到確認.
- 没有发现ARMC5基因突变.
- 患者在手术后呈现逐渐的精神和身体恢复.
结论:
- 主要双边上腺增生是一种罕见但重要的库辛综合征的原因.
- 双边上腺切除术可以导致成功的临床康复.
- 进一步研究这种疾病的遗传基础是有必要的.
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