小结
定义
病史和体格检查
关键诊断因素
- 年轻患者 (MEN1/2)
- 阳性家族史 (MEN1/2)
- 偶发出汗、心悸和头痛三联征 (MEN2)
- 肾结石的临床特征 (MEN1/2)
- 面部血管纤维瘤或胶原瘤 (MEN1)
- 黏膜神经瘤 (MEN2B)
- 臂距和上下身段比例 (MEN2B)
- 可触及甲状腺结节 (MEN2)
- 月经不调 (MEN1)
- 视力变化 (MEN1)
- 不明原因的潮红 (MEN2)
- 不育 (MEN1)
- 肢端肥大症的临床特征 (MEN1)
- 甲状腺毒症的临床特征 (MEN1)
其他诊断因素
- 体重变化 (MEN1/2)
- 高血压 (MEN1/2)
- 腹痛 (MEN1/2)
- 头痛 (MEN1/2)
- 低创伤性骨折 (MEN1)
- 排便习惯改变 (MEN1/2)
- 心悸 (MEN1/2)
- 容易青肿 (MEN1/2)
- 伤口愈合缓慢 (MEN1/2)
- 勃起功能障碍 (MEN1)
- 皮质醇增多症/库欣综合征的临床特征 (MEN1/2)
- 焦虑 (MEN1/2)
- 畏热 (MEN1)
- 意识错乱 (MEN1/2)
- 脱水 (MEN1/2)
- 胃肠道出血 (MEN2)
- 肝肿大 (MEN2)
危险因素
- MEN 的家族病例
- RET 原癌基因突变
- MEN1 (menin) 突变
诊断性检查
首要检查
- 血清降钙素 (MEN2)
- 血清癌胚抗原 (MEN2)
- 血浆甲氧基肾上腺素 (MEN2)
- 血清甲状旁腺素和钙 (MEN1/2)
- 空腹血清胃泌素 (MEN1)
- 血清嗜铬粒蛋白 A (MEN1)
- 血清催乳素 (MEN1)
- 胰岛素样生长因子-1 (MEN1)
- 24 小时尿液甲氧基肾上腺素和儿茶酚胺 (MEN2)
- 24 小时尿钙 (MEN1/2)
- 甲状腺活组织检查 (MEN2)
需考虑的检查
- 空腹血糖/胰岛素 (MEN1)
- 血清 C-肽 (MEN1)
- 钙刺激性胃泌素 (MEN1)
- 血清胰岛素原 (MEN1)
- 血清胰多肽 (MEN1)
- 血清胰高血糖素 (MEN1)
- 游离甲状腺素 (T4) (MEN1)
- 促甲状腺激素 (TSH) (MEN1)
- 地塞米松抑制试验 (MEN1/2)
- 尿液磺脲 (MEN1/2)
- 间碘苄胍闪烁扫描 (MIBG) (MEN2)
- 腹部和盆腔 18F-氟二羟基苯丙氨酸（18F-DOPA）正电子发射计算机断层显像（positron emission tomography, PET）/CT 显像（MEN2）
- 奥曲肽扫描 (MEN1)
- 腹部和盆腔镓-68 DOTATATE PET/CT（MEN1 和 MEN2）
- 锝 99 甲氧基异丁基异腈闪烁扫描 (MEN1/2)
- 腹部 CT (MEN1/2)
- 腹部 MRI (MEN1/2)
- 胸部 CT 或 MRI (MEN1)
- 垂体 MRI (MEN1)
- 内窥镜超声检查 (MEN1)
- 上消化道内镜检查（MEN1）
- 幽门螺杆菌吹气试验、活组织检查或粪便抗原试验 (MEN1/2)
治疗流程
MEN2 家族史
MEN1
MEN2
撰稿人
作者
Rebecca Gorrigan, BSc, MBChB (hons), MRCP
Consultant Physician and Endocrinologist
Department of Endocrinology
Barts and the London NHS Trust and Queen Mary University of London
London
UK
利益声明
RG declares that she has no competing interests.
Maralyn Druce, MA, MRCP, PhD
Professor of Endocrine Medicine
Department of Endocrinology
Barts and the London Medical School
London
UK
利益声明
MD has received fees for consulting from Ipsen and Novartis; their products are used in the treatment of neuroendocrine tumours. Neuroendocrine tumours of the pancreas are features of MEN1. The topic does not discuss specific therapies for features of the condition.
鸣谢
Dr Rebecca Gorrigan and Professor Maralyn Druce would like to gratefully acknowledge Dr Jennifer Mammen and Dr Roberto Salvatori, previous contributors to this topic.
利益声明
JM and RS declare that they have no competing interests.
同行评议者
Michael Levine, MD, FAAP, FACP
Director
Division of Endocrinology and Diabetes
The Children's Hospital of Philadelphia
Philadelphia
PA
利益声明
ML declares that he has no competing interests.
Salvatore Corsello, MD
Associate Professor of Endocrinology
Catholic University School of Medicine
Rome
Italy
利益声明
SC declares that he has no competing interests.
鉴别诊断
- 甲状旁腺功能亢进性颌骨肿瘤综合征
- 家族性孤立性甲状旁腺功能亢进
- 散发性原发性甲状旁腺功能亢进
更多 鉴别诊断指南
- 肿瘤学NCCN临床实践指南：神经内分泌肿瘤
- 胃肠胰神经内分泌（包括类癌）肿瘤治疗指南
更多 指南
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