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Updated: Mar 18, 2026

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婴儿系统性炎:一个熟悉的症状揭示了一个不寻常的疾病
Swastika Nayek1, Arshpreet Sandhu1, Amber Kumar1
1Pediatrics, All India Institute of Medical Sciences (AIIMS) Bhopal, Bhopal, IND.
Cureus
|March 17, 2026
概括
婴儿系统性阴症是一种罕见的遗传疾病,导致阴物质沉积. 通过基因检测进行早期诊断对于管理婴儿这种渐进的多系统疾病至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 罕见疾病 罕见疾病
背景情况:
- 婴儿系统性阴症 (ISH) 是一种罕见的自体逆向性疾病.
- 通过在多个器官中沉积氨酸物质的特征,导致渐进的多系统参与.
- 非特定的早期症状往往导致诊断延迟.
研究的目的:
- 报告婴儿患有慢性腹和发育不良的ISH病例.
- 突出诊断挑战和遗传检测的重要性.
- 强调早期识别,以改善患者管理.
主要方法:
- 一个七个月大的女婴的临床病例介绍.
- 进行全面的临床检查和实验室评估.
- 整体外基因组测序以确定遗传突变.
主要成果:
- 婴儿出现了慢性腹,发育不良,粗的面部特征,关节色素增多,围皮疹和关节运动减少.
- 遗传分析显示,在ANTXR2基因 (c.1074del;p.Ala359fs) 中存在同胞性致病性框架转移突变.
- 这证实了婴儿系统性阴症的诊断.
结论:
- 诊断ISH需要考虑婴儿患有慢性腹,关节收缩和皮肤病变的罕见遗传疾病.
- 早期遗传检测对于确诊,遗传咨询和支持性护理至关重要.
- 这一案例凸显了ANTXR2基因突变在婴儿系统性阴症中的重要性.
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