一名患有致病MEN1变异的14岁男孩在例行随访期间被诊断为无症状胰岛素瘤
Risa Yokoyama1, Takumi Shibazaki1, Chizuko Nakamura1
1Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
概括
多发性内分泌瘤1型 (MEN1) 可以出现无症状的胰岛素瘤. 选择性动脉分泌剂注射 (SASI) 测试有助于诊断和定位常规测试不确时的胰岛素瘤.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
背景情况:
- 多重内分泌瘤1型 (MEN1) 是一种由MEN1基因突变引起的自体主导性疾病,导致各种内分泌瘤.
- 胰岛素瘤是一种胰腺内分泌瘤,可以导致低血糖症.
- 无症状胰岛素瘤存在诊断挑战,特别是当经典标准不满足时.
研究的目的:
- 调查选择性动脉分泌剂注射 (SASI) 测试在诊断和定位MEN1.1患者胰岛素瘤的有用性.
- 在胰岛素瘤的常规诊断方法没有确定性时,评估SASI测试.
主要方法:
- 一个14岁男性患有MEN1.1的病例报告.
- 偶然检测出高胰岛素血糖低血症和胰腺结节.
- 执行各种低血糖诱导试验.
- 选择性动脉分泌剂注射 (SASI) 测试用于定位和诊断.
- 胰腺病变的外科切除和病理检查.
主要成果:
- 患者呈现无症状的高胰岛素血糖低血症和胰腺结节,携带致病性MEN1变种.
- 常规的胰岛素瘤诊断测试是负面的或不确定的.
- SASI的测试强烈表明了胰岛素瘤的存在和位置.
- 病理学发现证实了胰岛素瘤的存在,与SASI测试结果一致.
结论:
- 传统的诊断测试对于在MEN1患者中识别无症状胰岛素瘤可能具有挑战性.
- SASI测试是用于诊断和定位胰岛素瘤的宝贵工具.
- 在特定的临床场景中,SASI测试可以克服传统诊断方法的局限性.
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