多重内分泌瘤与非典型的临床过程和一个不确定的致病性MEN1基因变异:一个病例报告
Syo Sato1,2, Masahisa Arahata1,3, Yoshihisa Kumano1
1Department of Internal Medicine, Nanto Municipal Hospital, Nanto, Japan.
Medicine
|February 27, 2026
概括
多重内分泌瘤1型 (MEN1) 诊断在异型症状的老年患者中可能具有挑战性. 这一案例凸显了考虑MEN1和整合患者病史以准确诊断的重要性.
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:
- 多发性内分泌瘤1型 (MEN1) 是一种罕见的遗传疾病,以内分泌瘤为特征.
- 由于非特异性或缺失症状,MEN1的诊断往往会延迟,导致错过或迟到的诊断.
研究的目的:
- 报告一个被诊断为MEN1的病例,该病例发生在一个异常表现的老年患者身上.
- 强调诊断方面的挑战以及将病史纳入MEN1诊断中的重要性.
主要方法:
- 一个88岁的男性患有痴呆症和热中风的案例研究.
- 诊断工作包括对不适当的抗尿激素分泌综合征和缺铁性贫血的评估.
- 基因检测发现了一个不确定的 MEN1 变异 (rs2959656).
主要成果:
- 根据临床发现,该患者被诊断为MEN1,包括垂体瘤和十二指肠胃瘤.
- 认知症状随着SIADH的治疗而改善,并且下垂体瘤被重新归类为非功能性.
结论:
- 在有异常临床表现的老年人中应考虑MEN1.
- 整合先前的病史对于及时准确的MEN1诊断至关重要.
- MEN1变种rs2959656可能在疾病的发病过程中发挥作用.
更多相关视频
08:57Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
Published on: May 17, 2024
2.7K
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
2.2K
相关概念视频
Abnormal Proliferation
5.3K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
5.3K
Cancer-Critical Genes I: Proto-oncogenes
11.6K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
11.6K
