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Yanling Chen¹, Yumei Liu¹, Shaoru He¹

¹Department of Neonatology, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangdong, 510080, China.

Open life sciences

|November 10, 2025

概括

斯图夫-维德曼综合征 (SWS) 是一种罕见的遗传疾病. 这一案例突出了中国婴儿的新型LIFR基因变异,强调了早期诊断,以更好地管理骨发育不良和脱自治症.

科学领域:

遗传学遗传学是一个
儿科儿科儿科
罕见疾病罕见疾病

背景情况:

斯图夫-维德曼综合征 (SWS) 是一种罕见的自体相衰退性疾病.
它的特征是骨发育不良,自律不良和多系统问题,通常与LIFR基因变异有关.

研究的目的:

报告一个新型化合物异合体变异体在LIFR基因在中国婴儿与SWS.
为中国人口中关于SWS的有限文献做出贡献.
强调早期SWS识别和干预的重要性.

主要方法:

一个2个月大的中国婴儿出现了SWS症状的案例报告.
整体外基因组测序以识别遗传变异.
临床观察和支持性干预.

主要成果:

在LIFR基因中发现了一种新型化合物异质合体变异.
婴儿经历了持续的肺高血压,复发性高温症和多器官功能障碍.
随访显示全球发育迟缓和持续的骨异常.

结论:

早期识别LIFR基因变异对于管理SWS至关重要.
及时干预可以帮助管理多系统并发症.
需要对向治疗进行进一步的研究,以改善患者的治疗结果.

关键词:

斯图维·维德曼 (StüveWiedemann) 是一个伟大的德国人.两种自主性两个自主性过热症过热症是什么?肺高血压是一种肺高血压.热调节失调的原因是

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