多发性内分泌新陈代谢1型呈现为反复出现的胃肠道出血和:一个诊断挑战
Vetha Irene Sanjana1, Jawairia Fahim1, Asif Sekander2
1Internal Medicine, The Hillingdon Hospital, London, GBR.
Cureus
|January 16, 2026
概括
多重内分泌瘤1型 (MEN1) 是一种罕见的遗传疾病. 这一案例表明,胃肠道出血,血栓炎和高血症如何成为MEN1的早期迹象,即使没有家族病史.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 胃肠病学 胃肠病学
背景情况:
- 多重内分泌瘤1型 (MEN1) 是一种影响甲状腺,胰岛和垂体腺的遗传性疾病.
- MEN1通常是遗传的,但也可能由新突变引起,导致表现变化和诊断延迟.
- 特别是在零星病例中,MEN1的非典型呈现会带来诊断挑战.
研究的目的:
- 报告一个 MEN1 病例的异常表现,模仿胃潰瘍疾病和炎症性肠道疾病.
- 突出识别微妙的临床线索在没有家族病史的患者诊断MEN1的重要性.
- 强调生物化学和功能成像在识别MEN1综合征中的作用.
主要方法:
- 一个48岁的男子患有无法解释的胃肠道出血,血栓炎和高血症的病例报告.
- 诊断工作包括内镜,生物化学测试 (,PTH,胃素),功能成像 (甲状腺,胰腺,十二指肠) 和遗传测试.
- 管理涉及手术干预发现的瘤和遗传查亲属.
主要成果:
- 患者出现了严重的胃肠道出血,食道炎,十二指肠炎和血栓炎.
- 生物化学测试显示高血症,副甲状腺激素升高和高胃素水平,表明MEN1.
- 图像检测证实了甲状腺腺瘤和胰腺和十二指肠的神经内分泌瘤;遗传检测证实了MEN1突变.
结论:
- 这一案例强调了MEN1的诊断复杂性,特别是在零星的情况下.
- 胃肠道,出血,血栓炎和高血症可能是MEN1的关键早期指标.
- 及时识别和全面调查对于管理MEN1及其相关并发症至关重要.
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