通过炎症表现呈现的Trisomy 8表现及其对thalidomide的反应:两个病例报告和叙事审查
Xiaohua Zhang1, Yan Zhao2, Yuting Pan1
1Department of Rheumatology and Immunology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Frontiers in pediatrics
|September 4, 2024
概括
儿童的三症8 (T8) 即使没有血液疾病,也可能出现炎症症状. 早期诊断和治疗,包括免疫调节疗法,是改善T8患者治疗结果的关键.
科学领域:
- 儿科风湿病学 儿科风湿病学
- 临床遗传学 临床遗传学
- 血液学 血液学 血液学
背景情况:
- 有一种已知的关联存在于Trisomy 8 (T8),Behcet's disease (BD) 和骨髓发育综合征 (MDS) 之间.
- 炎症表现可以在T8的血液学参与之前发生.
- T8的临床范围从轻度到重度的残疾.
研究的目的:
- 报告诊断为Trisomy 8 (T8) 的儿童的炎症特征,这些儿童没有血液学的参与.
- 突出儿童病例T8的诊断挑战和治疗方法.
主要方法:
- 追溯收集2名儿科患者的T8数据.
- 排除标准包括骨髓质疏松症候群 (MDS).
- 对临床表现,诊断程序和治疗反应的审查.
主要成果:
- 两位患者在T8诊断之前都表现出各种炎症症状.
- 炎症表现是主要的表现特征.
- 葡萄糖皮质类药物和thalidomide在治疗炎症方面表现出有效性.
结论:
- 儿童T8早期临床症状往往是非特异性的.
- 诊断依赖于型分析,内镜和骨髓发现.
- 及时的免疫调节疗法和持续的随访对于T8患者的良好预后至关重要.
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