埃尔德海姆-切斯特病与双边轨道质量和多系统症状:两个病例报告
JunYi Qiao1, Ruixin Ma1, Xiaolin Peng1
1Department of Ophthalmology, West China Hospital of Sichuan University, Sichuan, Chengdu, 610041, China.
World journal of surgical oncology
|July 31, 2023
概括
埃尔德海姆 - 切斯特病 (ECD) 可以影响轨道,呈现视力丧失. 向治疗,特别是BRAF突变,为这种罕见的囊细胞性疾病提供了最有效的治疗方法.
科学领域:
- 囊细胞性疾病 囊细胞性疾病
- 眼科医生 眼科 眼科
- 在瘤学瘤学.
背景情况:
- 埃尔德海姆 - 切斯特病 (ECD) 是一种罕见的囊细胞性疾病,导致多系统的质粒状透.
- 轨道干涉是已知的,但往往被忽视的,心电障碍的表现.
- 这份报告详细介绍了两种双边轨道ECD病例,其中一种是由原发性血栓细胞瘤症复杂化.
研究的目的:
- 描述两个患有轨道ECD的患者的临床病理特征,治疗策略和结果.
- 突出涉及轨道的ECD的诊断挑战和治疗影响.
- 强调基因突变的作用,如BRAF V600E,指导治疗决策.
主要方法:
- 两名患有双边轨道ECD的患者的案例介绍.
- 临床评估包括proptosis,视力损失和全身症状.
- 通过病理活检和BRAF V600E突变分析确认诊断.
- 治疗比较:向治疗与放射治疗.
主要成果:
- 两位患者都出现了由于轨道内质量而导致的亡和视力损失.
- 通过活检和BRAF V600E突变检测证实了诊断; 一名患者还患有CALR突变和原发性血栓细胞瘤.
- 第1名患者仅接受放射治疗,视力没有改善.
- 第二名接受向治疗的患者,全身症状有所改善,但由于不可逆转的损伤,视力没有恢复.
结论:
- 由于其罕见和各种表现,ECD经常被误诊;轨道干扰是常见的.
- 手术切除有助于诊断和除,但并不能治愈.
- 针对性治疗对BRAF突变的ECD非常有效.
- 在启动针对性治疗耐火性ECD之前,查髓状瘤至关重要.
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