心肌面膜形症1:一个病例报告和文献综述
Chen Liang1, Zhihua Wang2, Gaigai Bai2
1Department of Second Orthopedics, Xi'an Central Hospital, Xi'an, China.
Translational pediatrics
|March 11, 2026
概括
心肌面膜形1 (CAFD1) 是一种罕见的骨纤维病. 一份新的病例报告详细介绍了一名患有PRKACA基因突变的患者,扩大了对这种疾病及其治疗的了解.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 儿科 儿科 儿科
背景情况:
- 心肌面膜形1 (CAFD1) 是一种罕见的骨纤维病.
- 它是由PRKACA基因中的致病变体引起的.
- CAFD1与Ellis-van Creveld (EvC) 综合征具有相似的表型重叠,全球仅有五例此前报告的病例,所有病例都具有p.Gly137Arg突变.
研究的目的:
- 报告一个CAFD1.1的新病例.
- 进一步描述与CAFD1.1相关的PRKACA基因突变.
- 突出CAFD1.1患者的临床管理和结果.
主要方法:
- 进行了全外体测序 (WES) 来确定遗传原因.
- 记录了临床表现和患者病史.
- 进行了手术干预和后续评估.
主要成果:
- 一名10岁的男性患者出现了身材矮小,膝盖形,多指甲形和形的指甲/牙.
- 在WES检测中,发现了一种新出现的PRKACA基因异构基因突变:c.409G>A (p.Gly137Arg).
- 机器人辅助的骨关节固定改善了患者手术后的步态和运动能力.
结论:
- 这一案例扩大了PRKACA c.409G>A (p.Gly137Arg) 变种的地理分布.
- 在患有EVC/EVC2.2负的EvC类表型的患者中,应考虑进行PRKACA查.
- 失调的PKA活动可能是CAFD1的骨和心脏表现的基础,强调早期诊断和多学科护理的重要性.
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