| 韩扬,康英秀,庞晓虹,赵瑞玲.ARMC5基因突变的双侧肾上腺结节1例并文献复习[J].浙江中西医结合杂志,2024,34(3): |
| ARMC5基因突变的双侧肾上腺结节1例并文献复习 |
| Bilateral adrenal nodules with ARMC5 gene mutation: a case report and literature review |
| 投稿时间:2023-08-09 修订日期:2023-11-21 |
| DOI: |
| 中文关键词: 原发性双侧大结节性肾上腺增生 库欣综合征 ARMC5基因突变 |
| 英文关键词:Primary bilateral macronodular adrenal hyperplasia Cushing syndrome ARMC5 gene mutation |
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| 中文摘要: |
| 文章通过对1例ARMC5基因突变的原发性双侧大结节性肾上腺增生(PBMAH)的临床分析及文献复习,探讨PBMAH的发病机制、临床及影像学表现、治疗方案及疾病预后。PBMAH是一类罕见的库欣综合症(CS),潜伏期长,临床表现较隐匿,往往不易早期发现、诊断及治疗。临床中对于意外发现的肾上腺结节,需积极排查,明确是否为功能性结节,并需要进一步治疗。 |
| 英文摘要: |
| This article reports a case of primary bilateral macronodular adrenal hyperplasia (PBMAH) with ARMC5 gene mutation and reviews the literature to explore the pathogenesis, clinical and imaging manifestations, treatment and prognosis of PBMAH. PBMAH is a rare Cushing's syndrome (CS) with long latent period and hidden clinical manifestations, which is often difficult to detect, diagnose and treat early. In clinical practice, unexpected adrenal nodules need to be actively screened to determine whether they are functional nodules, and then further treatment is needed. |
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