拉伦综合症:两个兄弟姐妹的故事
Niladri Das1, Silima Subhasnigdha Tarenia1, Souvik Saha1
1Nilratan Sircar Medical College and Hospital, Kolkata, India.
Journal of the ASEAN Federation of Endocrine Societies
|December 4, 2023
概括
生长激素不敏感综合征,或拉伦综合征,由于GH受体问题导致严重的矮身. 这项研究突出了诊断方面的挑战,并证实了两个兄弟姐妹的拉伦综合征,他们的IGF1水平低,GH水平高.
科学领域:
- 儿科 儿科 儿科
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
背景情况:
- 主要生长激素 (GH) 耐药性或拉伦综合征是一种遗传性疾病,由GH受体或后受体信号通路的突变引起.
- 受影响的个体表现出产后生长失败,临床上模仿GH缺乏,需要准确的区分.
- 血缘关系增加了继承这种自体相衰退性疾病的风险.
研究的目的:
- 介绍两个怀疑存在GH缺乏症的兄弟姐妹的诊断过程.
- 要区分GH缺乏和GH不敏感综合征 (拉伦综合征).
- 在受影响的兄弟姐妹中确认拉伦综合征的诊断.
主要方法:
- 临床评估两名兄弟姐妹的严重矮身和延迟牙喷发.
- 生物化学评估包括血清胰岛素样生长因子1 (IGF1) 和胰岛素样生长因子结合蛋白3 (IGFBP3) 的水平.
- 挑性GH测试 (克罗尼丁刺激) 和IGF1生成测试.
主要成果:
- 两个兄弟姐妹都表现出严重的矮身,延迟牙喷发,低IGF1和低IGFBP3.
- 克洛尼丁刺激显示高峰GH水平 (>40 ng/mL),排除GH缺乏.
- IGF1生成测试支持了GH不敏感的诊断,与拉伦综合征一致.
结论:
- 准确区分GH缺乏和GH不敏感对于适当的管理至关重要.
- 在严重矮身,IGF1低,刺激后具有矛盾的GH升高的情况下,应考虑拉伦综合征.
- 在疑似病例中,基因检测可以进一步确认GH受体或信号通路中的突变.
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