儿童时期的多发性内分泌瘤1型以及一种新型变异的描述
Mayara Teixeira Alexandrino Sales1, Rebeca Costa Castelo Branco1, Carlos Henrique Paiva Granjeiro1
1Universidade Federal do Ceará, Hospital Universitário Walter Cantídio, Fortaleza, CE, Brazil.
概括
多发性内分泌瘤1型 (MEN1) 在一名11岁的男孩身上被诊断为因胰岛素瘤而出现低血糖症. 基因分析揭示了一种新的MEN1基因变异,突出了儿科病例的早期诊断.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 临床遗传学 临床遗传学
- 分子诊断学 分子诊断学
背景情况:
- 多发性内分泌瘤1型 (MEN1) 是一种罕见的遗传疾病,其特征是内分泌腺体的瘤.
- 早期诊断和分子表征对于管理MEN1至关重要,特别是在儿科患者群体中.
研究的目的:
- 报告一个罕见的儿科MEN1病例.
- 详细介绍一个年轻患者MEN1的分子诊断.
- 为了强调MEN的非典型初始表现1.
主要方法:
- 一个患有和低血糖症的11岁男孩的临床病例介绍.
- 诊断成像 (MRI) 和胰腺,垂体和副甲状腺瘤的手术干预.
- 下一代测序 (NGS) 用于 MEN1 基因变异的识别.
主要成果:
- 患者呈现出因胰岛素瘤而导致的低血糖症,其次是巨乳腺瘤和甲状腺功能障碍症.
- 手术和医疗治疗导致瘤解脱和荷尔蒙正常化.
- 在MEN1基因中,NGS发现了一种新的,可能致病的变体 (c.442A>C:p.(Thr148Pro)).
结论:
- 这一案例强调了青春期前MEN1诊断的可能性,而低血糖是不寻常的初始症状.
- 通过确定两个主要内分泌瘤来确立临床诊断.
- 通过一种新型MEN1变异的分子确认强调了儿童MEN1病例中基因检测的重要性.
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