男人2B案例与非典型的呈现,不寻常的临床过程和文学评论
Ç Keskin1, A G Canpolat1, Ş Canlar1
1Ankara University School of Medicine, Department of Endocrinology and Metabolic Diseases, Ankara, Turkey.
概括
多重内分泌瘤2B型 (MEN 2B) 呈现出多种临床过程,甚至具有新的突变. 早期诊断和有效治疗对于改善MEN 2B患者的预后至关重要.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
背景情况:
- 多发性内分泌瘤2B型 (MEN 2B) 是一种罕见的遗传综合征.
- 它主要是由Met918Thr生殖系RET突变引起的.
- MEN 2B的特点是髓状甲状腺癌 (MTC),肌红细胞瘤 (PHEO) 和独特的表型特征,具有可变的临床表现.
研究的目的:
- 描述四个 MEN 2B 病例,其异常表现和临床过程.
- 审查最近关于MEN 2B的临床数据.
主要方法:
- 分析了四个MEN 2B病例的新发M918T突变.
- 对MEN 2B. 的最新临床数据的审查.
主要成果:
- 这四名患者都有新的M918T突变,没有家族病史.
- 现象特征有所变化,有两例显示典型的MEN 2B特征,两例缺乏引人注目的特征.
- 最初的表现包括MTC (2),肠道性神经炎症 (1) 和PHEO (1);双边PHEO在所有四个病例中都存在.
结论:
- MEN 2B表现出显著的表型变异性和不同的临床结果.
- 对于偶发的MEN 2B病例,有可疑的临床特征,建议进行基因检测.
- 早期诊断改善了预期寿命,但一些晚诊断的患者可能有更温和的疗程,有效的治疗.
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