mitra 门脱落和连接组织系统异常的关联. 一个表型连续性
1Department of Medicine, Johns Hopkins Medical Institutions, Baltimore, MD 21205.
JAMA
|July 28, 1989
概括
许多患有结缔组织疾病的患者仍然未被分类,表现出类似马尔凡综合征的特征. 这些病例代表了一种"重叠"的遗传性结缔组织疾病,称为MASS表型.
科学领域:
- 遗传学 是一个遗传学.
- 类风湿病学 类风湿病学
- 心脏病学 心脏病学
背景情况:
- 超过一半的被评估为遗传性结缔组织疾病的患者缺乏当前的分类.
- 这些未分类的患者往往呈现临床特征,与马方综合征重叠.
研究的目的:
- 描述一个患有重叠连接组织异常的患者队列.
- 建议对具有马方综合征特征但不符合完整诊断标准的患者进行分类.
主要方法:
- 对怀疑遗传性结缔组织疾病的患者进行临床评估.
- 表型分析包括骨,心脏和皮肤表现.
- 基于 mitra 门脱落和大动脉扩张的分层.
主要成果:
- 尽管有证据表明细胞外基质缺陷,但很大一部分患者不符合现有的鼻病理.
- 常见的特征包括长肢,胸部形,纹,心心门,以及轻度的大动脉根扩张.
- 现象型形成了一个连续从马方综合征到孤立的二手心脱落.
结论:
- 有一个独特的患者群体具有"重叠"遗传性结缔组织疾病存在.
- 对于这些患者,建议使用"MASS表型" (中枢,大动脉,骨,皮肤).
- 没有确定的遗传或生化标志物,临床诊断仍然具有挑战性.
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