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肢端肥大症

最后审阅: 21 Oct 2024
最后更新: 19 Oct 2021

小结

定义

病史和体格检查

关键诊断因素

  • 面容粗糙
  • 软组织和皮肤变化
  • 腕管综合征
  • 关节疼痛和功能障碍
  • 打鼾
  • 性功能改变
  • 遗传性综合征病史或家族史
完整详情

其他诊断因素

  • 疲劳
  • 高血压、心律失常
  • 器官肿大症
  • 食欲增加、多尿/烦渴
  • 头痛
  • 视野缺损
  • 垂体功能减退的体征和症状
  • 颅神经麻痹(如眼肌麻痹)
完整详情

危险因素

  • GPR101 过度表达
  • 多发性内分泌瘤病 1 型综合征
  • 孤立性家族性肢端肥大症
  • McCune-Albright 综合征
  • Carney 综合征
完整详情

诊断性检查

首要检查

  • 血清胰岛素样生长因子 1 (insulin-like growth factor 1, IGF-1)
  • 口服葡萄糖耐量试验 (OGTT)
  • 随机血清生长激素 (GH)
完整详情

需考虑的检查

  • 垂体 MRI 或 CT 扫描
  • 生长激素释放激素
  • 胸部和/或腹部 CT 扫描
  • 采用放射性同位素标记的生长抑素类似物全身闪烁扫描术(奥曲肽闪烁扫描术)
  • 采用放射性核素标记生长抑素类似物(镓-68 DOTATATE)的 PET 扫描
  • 血浆皮质醇
  • 催乳素
  • 促甲状腺激素(TSH)和游离甲状腺素
  • 雌二醇或睾酮
  • 视野检测
完整详情

治疗流程

急症处理

封闭型垂体肿瘤

无法切除的垂体肿瘤(伴有神经或血管侵犯/浸润)

非垂体腺瘤病因

持续性治疗

垂体腺瘤进展或复发

撰稿人

作者

Maria Fleseriu, MD, FACE

Professor of Medicine (Endocrinology) and Neurological Surgery

Director

Pituitary Center

Oregon Health & Science University

Portland

OR

利益声明

MF declares that she receives research funding (paid to Oregon Health & Science University) as well as scientific consulting fees from Chiasma, Crinetics, Ionis and Recordati; she receives scientific consulting fees from Ipsen and Pfizer. MF is an author of a number of references cited in this topic.

鸣谢

Professor Fleseriu would like to gratefully acknowledge Professor Ariel Barkan, Dr Omar Serri and Dr Sophie Vallette, previous contributors to this topic.

利益声明

AB has received lecturing fees and research support from Novartis and Ipsen and is an author of several references cited in this topic. OS has received lecturing and educational program fees from Novartis Canada and is an author of a reference cited in this topic. SV has received fees for lecturing and attending a symposium and is an author of a reference cited in this topic.

同行评议者

Robert D. Murray, MBBS, BSc, FRCP, MD

Consultant Endocrinologist & Honorary Senior Lecturer

Department of Endocrinology

Leeds Centre for Diabetes & Endocrinology

Leeds Teaching Hospitals NHS Trust

St James’s University Hospital

Leeds

UK

利益声明

RDM declares that he has no competing interests.

Shlomo Melmed, MD

Senior Vice President and Dean

Cedars Sinai Medical Center

Los Angeles

CA

利益声明

SM has research grants of over 6 figures USD. SM is an author of a number of references cited in this topic.

Laurence Kennedy, MD, FRCP

Professor and Chief

Chairman

Department of Endocrinology, Diabetes and Metabolism

Cleveland Clinic

Cleveland

OH

利益声明

LK declares that he has no competing interests.

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