肢端肥大症
Acromegaly
定义 英文原文（暂无中文）
A rare acquired endocrine disease related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 青少年期、成年期、儿童期、老年期、婴儿期
- 患病率
- 1-9 / 1 000 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| AIP | AHR interacting HSP90 co-chaperone | Major susceptibility factor in |
| GPR101 | G protein-coupled receptor 101 | Major susceptibility factor in |
临床表型 93
极常见 99–80%27
- 内分泌系统异常 HP:0000818
- 肢端过度生长 HP:0033794
- 垂体前叶功能减退症 HP:0000830
- 关节疼痛 HP:0002829
- 宽足 HP:0001769
- 宽前额 HP:0000337
- 面容粗糙 HP:0000280
- 上肢骨干皮质增厚 HP:0003859
- 掌褶纹深 HP:0006191
- 跖部深褶 HP:0001869
- 生长激素水平升高 HP:0000845
- 疲乏 HP:0012378
- 脸颊丰满 HP:0000293
- 多汗症 HP:0000975
- 关节肿胀 HP:0001386
- 巨手 HP:0001176
- 长脸 HP:0000276
- 巨指 HP:0004099
- 巨舌症 HP:0000158
- 巨耳畸形 HP:0000400
- 下颌前突 HP:0000303
- 骨关节炎 HP:0002758
- 垂体生长激素腺瘤 HP:0011760
- 脂溢性皮炎 HP:0001051
- 锥形指 HP:0001182
- 皮肤增厚 HP:0001072
- 宽鼻 HP:0000445
常见 79–30%32
- 牙列异常 HP:0000164
- 月经周期异常 HP:0000140
- 焦虑 HP:0000739
- 虚弱 HP:0025406
- 宽下颌 HP:0012802
- 压迫性正中神经病变 HP:0012185
- 抑郁 HP:0000716
- 糖尿病 HP:0000819
- 痛经 HP:0100607
- 脸型异常 HP:0011334
- 前额突出 HP:0002007
- 全身性多毛症 HP:0002230
- 声音嘶哑 HP:0001609
- 高血压 HP:0000822
- 低促性腺激素性性腺功能减退症 HP:0000044
- 循环胰岛素样因子1水平升高 HP:0030269
- 泌乳素水平升高 HP:0000870
- 胰岛素抵抗 HP:0000855
- 脊柱后凸畸形（驼背） HP:0002808
- 偏头痛 HP:0002076
- 多结节性甲状腺肿 HP:0005987
- 眼睑水肿 HP:0100540
- 感觉异常 HP:0003401
- 垂体大腺瘤 HP:0025693
- 眶上嵴突出 HP:0000336
- 皮赘 HP:0010609
- 睡眠呼吸暂停 HP:0010535
- 椎管狭窄 HP:0003416
- 连眉 HP:0000664
- 厚红唇缘 HP:0012471
- 2型糖尿病 HP:0005978
- 牙间隙增宽 HP:0000687
偶见 29–5%34
- 心脏瓣膜生理异常 HP:0031653
- 黑棘皮病 HP:0000956
- 痤疮 HP:0001061
- 肾上腺功能不全 HP:0000846
- 心律失常 HP:0011675
- 胆石症 HP:0001081
- 颅神经麻痹 HP:0006824
- 头皮回状纹 HP:0010541
- 低α-脂蛋白血症 HP:0003233
- 性欲减退 HP:0046504
- 牙齿错位咬合 HP:0000689
- 排尿困难 HP:0100518
- 溢乳 HP:0100829
- 全身性色素沉着 HP:0007440
- 头痛 HP:0002315
- 脑积水 HP:0000238
- 过度睡眠 HP:0100786
- 多毛症 HP:0000998
- 高甘油三酯血症 HP:0002155
- 肥厚型心肌病 HP:0001639
- 阳痿 HP:0000802
- 不孕症/不育症 HP:0000789
- 肠息肉 HP:0005266
- 二尖瓣反流 HP:0001653
- 肌痛 HP:0003326
- 盗汗 HP:0030166
- 月经稀发 HP:0000876
- 眼肌麻痹 HP:0000602
- 垂体性甲状腺功能减退症 HP:0008245
- 垂体泌乳素腺瘤 HP:0006767
- 不宁腿 HP:0012452
- 继发性闭经 HP:0000869
- 椎体压缩性骨折 HP:0002953
- 视野缺损 HP:0001123
近两年的全球研究 2,097L2
2024/10 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-10Lens densitometry alterations in acromegaly: Quantitative insights from Scheimpflug imaging and hormonal correlation
- 2026-10综述Patient-reported measures in hypothalamic-pituitary diseases
- 2026-10开放获取Hepatocyte Growth Hormone Receptor Ablation Is Associated With Aging Phenotypes and Hepatic Mitochondrial Dysfunction
- 2026-09综述开放获取Hypertriglyceridemia: Causes, Consequences, Diagnosis, and Management
- 2026-09Predictors of overall mortality in pituitary adenomas
- 2026-09病例报告开放获取Resolved GH excess and arginine vasopressin deficiency following pituitary apoplexy
- 2026-09病例报告Familial acromegaly with a novel <i>PRKAR1A</i> splice-acceptor variant and marked intrafamilial phenotypic variability
- 2026-09病例报告开放获取Familial acromegaly with a novel PRKAR1A splice-acceptor variant and marked intrafamilial phenotypic variability
- 2026-09开放获取Pasireotide-LAR and pegvisomant combination in resistant acromegaly: a case series of predominantly mammosomatotroph adenomas
- 2026-09综述开放获取Pituitary Society Delphi consensus on the role of radiotherapy for pituitary adenomas
- 2026-09综述开放获取Beyond insulin-like growth factor-1 (IGF-1) normalization: portal insulin and hepatic growth hormone (GH) sensitivity across metabolic disease
- 2026-09Pituitary adenomas in older patients - approaches, challenges and future directions
- 2026-09综述A Century of Growth Hormone from Pierre Marie (1886) to Creutzfeldt-Jakob Disease (1985)
- 2026-09病例报告Perioperative Management and Clinical Course of Acromegaly-Related Heart Failure: A Case Report
- 2026-09开放获取Nasal Packing After Trans-Sphenoidal Surgery for Pituitary Tumor: A Pilot of a Randomized Controlled Trial
- 2026-09Can primary aldosteronism and acromegaly be etiological factors in non-obese patients with obstructive sleep apnea syndrome?
- 2026-09Cardiovascular Morbidity in Acromegaly during a Long-term Follow-Up - a Nationwide Cohort Study
- 2026-09荟萃分析系统综述开放获取Endocrine and surgical outcomes after medial cavernous sinus wall resection for functioning pituitary adenomas: a systematic review and meta-analysis
- 2026-09开放获取Prolactinoma assessment and management: an international multidisciplinary cross-sectional survey of current practice
- 2026-09开放获取Octreotide-Mediated Co-Solubilization of Paclitaxel and Docetaxel: A Novel Targeted Formulation for Synergistic Anticancer Chemotherapy
国家医保药品目录中点名本病的药品 1L2
出自《国家基本医疗保险、生育保险和工伤保险药品目录（2025年）》（医保发〔2025〕33号，2026-01-01 起执行）。下列药品在药品名称或限定支付范围里出现了本病的名称。
匹配不到 ≠ 不能报销。目录里只有约一成药品设了限定支付范围，其余按适应症正常使用同样可报销；本区块只能回答「目录有没有点名这个病」，不能回答「这个病有没有药能报销」。各省执行细则、双通道与单独支付范围另有规定，请以当地医保部门口径为准。
- 注射用醋酸奥曲肽微球乙类西药限胃肠胰内分泌肿瘤、肢端肥大症。甲 ★(534) 地塞米松 口服常释剂型甲 ★(534) 地塞米松 注射剂甲 ★(534) 地塞米松棕榈酸酯 注射剂甲 ★(534) 地塞米松磷酸钠 注射剂
境外已获批用于本病的药物 9L2
欧盟 4 项、美国 5 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Somavert欧盟2002-11-12pegvisomant官方记录
- Signifor欧盟2012-04-24pasireotide官方记录
- Oczyesa欧盟2025-06-30octreotide官方记录
- Palsonify欧盟2026-04-23paltusotine官方记录
- Sandostatin LAR美国1998-11-25Octreotide官方记录
- Somavert美国2003-03-25Pegvisomant官方记录
- pasireotide美国2014-12-15官方记录
- MYCAPSSA (formerly Octreolin)美国2020-06-26octreotide (oral)官方记录
- Palsonify美国2025-09-25paltusotine官方记录
尚未获批的在研药物（5 项）
这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，不代表这个药已被证明有效，也不代表将来一定能上市，绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- Cyclo(-gamma-aminobutyryl-L-phenylalanyl-L-tryptophanyl-D-tryptophanyl欧盟2012-12-06Treatment of acromegaly官方记录
- vapreotide美国2003-11-04Treatment of acromegaly官方记录
- octreotide acetate subcutaneous implant美国2009-12-07Treatment of acromegaly官方记录
- veldoreotide美国2013-06-24treatment of acromegaly官方记录
- H-(4-amino-3-iodo)-D-Phe-c[Cys-(3-iodo)-Tyr-D-Trp-Lys-Val-Cys]-Thr-NH2美国2016-11-03Treatment of acromegaly官方记录
数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。
在中国开展的临床试验 13L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。
登记为可入组 1
- 招募中NCT03158090The Longitudinal Approach to Acromegaly: A Pattern of Treatment and Comparative Effectiveness Research中国研究中心 1 个：Guangzhou
其他状态的试验（12 项）
- 状态未知NCT00993356Preoperative Lanreotide Treatment in Acromegalic Patients With Macroadenomas中国研究中心 1 个：Guangzhou
- 已完成NCT00600886Safety and Efficacy of Pasireotide Long Acting Release (LAR) vs. Octreotide LAR in Patients With Active Acromegaly中国研究中心 2 个：Beijing、Shanghai
- 状态未知NCT01368133The Observational Study of Growth Hormone-secreting Pituitary Tumors中国研究中心 1 个：Shanghai
- 已完成NCT02060383Study of Management of Pasireotide-induced Hyperglycemia in Adult Patients With Cushing's Disease or Acromegaly中国研究中心 3 个：Beijing、Chengdu、Guangzhou
- 已完成NCT02493517Efficacy and Safety of Lanreotide Autogel® 60, 90 or 120 mg With Lanreotide 40 mg Prolonged Release (PR) in Acromegaly中国研究中心 10 个：Beijing、Chengdu、Fuzhou、Guangzhou、Guizhou、Nanjing 等 10 地
- 已完成NCT02354508Pasireotide in Patients With Acromegaly Inadequately Controlled With First Generation Somatostatin Analogues中国研究中心 3 个：Beijing、Chengdu、Guangzhou
- 状态未知NCT04520646A Pilot Study of Empagliflozin in the Treatment of Acromegalic Cardiomyopathy中国研究中心 1 个：Shanghai
- 已终止NCT05192382A Study to Evaluate the Safety and Efficacy of Paltusotine for the Treatment of Acromegaly (PATHFNDR-2)中国研究中心 10 个：Beijing、Changsha、Chengdu、Guangzhou、Hangzhou、Jinan 等 10 地
- 已完成NCT05431803Real-World Study (RWS) of Lanreotide Autogel (LAN) for the Treatment of Patients With Acromegaly in China中国研究中心 12 个：Beijing、Changsha、Chengdu、Guangzhou、Hangzhou、Nanjing 等 11 地
- 已完成NCT05761431A Single-dose Study of Octreotide Injection in Healthy Adult Subjects中国研究中心 1 个：Beijing
- 已完成NCT07814651A Clinical Trial to Evaluate Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of Octreotide Long-acting Injection in Patients With Acromegaly中国研究中心 1 个：Shanghai
- 已完成NCT07663318A Phase 1 Study to Evaluate the Relative Bioavailability of Octreotide Acetate Tablets(T25) Compared to MYCAPSSA® and The Food Effect on Pharmacokinetics Of Octreotide Acetate Tablets(T25)中国研究中心 1 个：Zibo
中国境外的在招试验 17L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
美国4意大利4英国3德国2土耳其1奥地利1比利时1巴西1保加利亚1丹麦1爱沙尼亚1法国1匈牙利1以色列1另有 10 个国家/地区
CT.gov 报告命中 17 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07813351PRESTO: A Phase III Randomised Controlled Trial of Dose-escalated Proton Beam Therapy Versus Standard of Care Radiotherapy for Functioning Pituitary Tumours
- 招募中NCT07641179A Study to Evaluate MAR002 for Acromegaly美国
- 尚未开始招募NCT07659912Direct Versus Video Laryngoscopy in Patients With Acromegaly
- 招募中NCT07583563An Observational Study of Octreotide Subcutaneous Depot in Patients With Acromegaly德国、英国
- 尚未开始招募NCT07623824A Phase III Clinical Trial to Evaluate the Efficacy and Safety of Octreotide Long-acting Injection in Patients With Acromegaly
- 尚未开始招募NCT07306325Ultrasound in Predicting Difficult Intubation in Acromegaly Patients土耳其
- 招募中NCT06930625A Study to Assess the Efficacy and Safety of Debio 4126 in Participants With Acromegaly Previously Treated With Somatostatin Analogs奥地利、比利时、巴西、保加利亚、丹麦、爱沙尼亚、法国、德国 等 21 国
- 招募中NCT07179926Effects of Pasireotide Lar Therapy on Bone Metabolism意大利
- 招募中NCT07195175Study of MAR002 in Healthy Men美国
- 尚未开始招募NCT06326853Neuroendocrine Mechanisms in Adiposity: An Integrated Approach to the Characterization of Potential Pharmacological Novel Targets Based on Experimental and Clinical Models
- 招募中NCT06597383The RApid Switch From 1st Generation Somatostatin Analogues to PaSireOtiDe In Acromegaly意大利
- 招募中NCT06949891KETOgenic Diet Therapy in Patients With ACROmegaly荷兰
- 招募中NCT05964712Effects of Therapies in the Acromegaly Disease: Acral Morpho-functional Study意大利
- 招募中NCT03042026Developing a Simple Recognition System of Acromegaly中国台湾
- 招募中NCT00461188Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA英国
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）