每日一题_2022.10.30

A 75-year-old man presented to the emergency department with a 6-month history of epigastric pain, watery diarrhea, and weight loss. Esophagogastroduodenoscopy revealed severe esophagitis, antral erosions, and duodenal ulcers (left). The gastric pH was below 2, and a fasting serum gastrin level was above 1000 pg per milliliter (reference range, 13-115). Cross-sectional imaging identified a single tumor along the distal duodenum that was resected (right). Histopathological analysis showed a well-differentiated neuroendocrine tumor that was positive for gastrin on immunohistochemical staining. The diagnosis in this case is most closely associated with which of the following syndromes?

一名 75 岁男性因上腹痛、水样腹泻和体重减轻 6 个月到急诊科就诊。 食管胃十二指肠镜检查显示严重的食管炎、胃窦糜烂和十二指肠溃疡（左）。 胃 pH 值低于 2，空腹血清胃泌素水平高于 1000 pg/mL（参考范围，13-115）。 横断面成像确定了沿被切除的十二指肠远端的单个肿瘤（右）。 组织病理学分析显示一个分化良好的神经内分泌肿瘤，免疫组化染色显示胃泌素阳性。 本病例的诊断与下列哪项综合征最密切相关？

A. Multiple endocrine neoplasia type 1

B. Li-Fraumeni syndrome

C. Multiple endocrine neoplasia type 2B

D. Von Hippel-Lindau syndrome

E. Multiple endocrine neoplasia type 2A

答案解析：

正确答案是 1 型多发性内分泌瘤。该患者被诊断为 Zollinger-Ellison 综合征，这是一种由产生胃泌素的神经内分泌肿瘤引起的胃酸分泌过多综合征。 多发性内分泌肿瘤 1 型——该特定患者没有——以垂体腺瘤、甲状旁腺增生和胃肠胰管肿瘤为特征。

正确答案：A