多发性内分泌新陈代谢1型 1
Jerena Manoharan1, Max B Albers, Anja Rinke
1Department of Visceral, Thoracic and Vascular Surgery, Philipps University Marburg, Marburg, Germany; Department of Gastroenterology and Endocrinology, Philipps University Marburg, Marburg, Germany; Department of Diagnostic and Interventional Radiology, Philipps University Marburg, Marburg, Germany.
多重内分泌瘤1型 (MEN1) 是一种罕见的遗传疾病. 通过有效管理瘤,对MEN1患者的早期诊断和专业护理可以显著改善寿命和生活质量.
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) 是一种罕见的自体主导遗传疾病.
- 它的特征是副甲状腺,胰腺,十二指肠和垂体腺中的神经内分泌瘤.
- 估计MEN1的患病率为每10万个人中3-20人.
研究的目的:
- 审查目前针对MEN1相关瘤的诊断和治疗策略.
- 突出早期检测和专门管理MEN1患者的重要性.
主要方法:
- 从PubMed. 的回顾性案例研究的分析和评估.
- 审查国家和国际临床指南.
- 包括专门中心的专家经验.
主要成果:
- MEN1是由MEN1基因的突变引起的;携带者从二十多岁开始需要终身查.
- 早期诊断和个性化治疗可以预防严重的荷尔蒙综合征,将寿命从55岁延长到70岁.
- 手术治疗决策取决于瘤特征;证据有限 (III级),强调需要专门中心.
结论:
- MEN1是罕见的,导致最佳治疗策略的证据有限.
- 患有MEN1基因突变的患者可以在专门的跨学科中心得到护理.
- 早期检测和器官节约治疗对于控制瘤生长和荷尔蒙活动至关重要.
更多相关视频
09:33Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
Published on: August 25, 2023
09:37Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
Published on: August 25, 2021
相关概念视频
Metastasis
Epithelial-to-Mesenchymal Transition
The epithelial-to-mesenchymal transition or EMT is a developmental process commonly observed in wound healing, embryogenesis, and cancer metastasis. EMT is induced by transforming growth factor-beta (TGF-β) or receptor tyrosine kinase (RTK) ligands, which further...
Smooth Endoplasmic Reticulum
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
Mitogens and the Cell Cycle
Non-LTR Retrotransposons
Enzyme-linked Receptors
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...
Structures of the Endocrine System
