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由于一种新的AIP生殖线拼接部位变异的下垂体巨症
Elisa Lamback1,2,3, Renan Lyra Miranda2, Leila Chimelli2
1Neuroendocrinology Research Center, Endocrinology Section, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Brazil.
Endocrine oncology (Bristol, England)
|October 11, 2024
概括
这项研究报告了一名11岁男孩罕见的 pituitary gigantism病例,该病例与一种新型的aryl碳化合物受体相互作用蛋白 (AIP) 基因变异有关. 这些发现突出了生长激素过量的遗传因素,并为治疗策略提供了信息.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 下垂体巨症是一种罕见的儿科内分泌疾病,是由于过多的生长激素 (GH) 分泌导致的.
- 遗传因素,特别是基碳化合物受体相互作用蛋白 (AIP) 基因变异,约占50%的病例.
研究的目的:
- 呈现一个患有视力丧失和增长加速的儿科患者下垂体巨症的病例.
- 为了研究复杂的脑垂体巨病例中的遗传基础和治疗反应.
- 要突出AIP基因变异在儿科垂体巨症中的作用.
主要方法:
- 一个11岁男孩的临床病例介绍,患有 pituitary gigantism 的症状.
- 激素测定 (GH,IGF-I),磁共振成像 (MRI),以及对垂体瘤的基因病理分析.
- 基因分析以确定致病变体,包括新型AIP基因变体.
- 应用人工智能预测模型对体静止素受体连接体反应的应用.
主要成果:
- 患者呈现出渐进的视力丧失,加速的线性生长,以及升高的GH/IGF-I水平,证实了垂体巨.
- 手术干预没有成功地实现治愈或视觉改善.
- 组织病理学揭示了一种稀疏颗粒的瘤,具有特定的体静止素受体表达 (SST2-阴性,SST5-阳性).
- 在AIP基因中发现了一种新的可能致病性生殖系变异 (c.279+1 G>A).
- 药理治疗以沙里奥提德和卡伯戈林导致IGF-I水平下降,但没有正常化.
结论:
- 这一案例强调了基因测试的重要性,特别是针对AIP基因变异的基因测试,在儿科垂体巨症中.
- 发现的新型AIP变异可能有助于患者病症的发病.
- 治疗策略可能需要基于瘤特征和遗传发现的个性化方法,正如部分对索马托斯塔丁类似物和卡伯戈林的部分反应所示.
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