患有18型三胞胎和马的儿童的威尔姆斯瘤
Elizabeth Chen1, Lisa Hackney2, Kristen VanHeyst2
1Case Western Reserve University School of Medicine.
Journal of pediatric hematology/oncology
|September 26, 2023
概括
患有三体 18 型形的三体 18 型形患者面临的威尔姆斯瘤风险增加. 本案例强调了这些条件的同时发生,并讨论了改善结果的管理策略.
科学领域:
- 儿科瘤学 儿科瘤学
- 临床遗传学 临床遗传学
- 腎臟病學 (nephrology) 是一種醫學專業.
背景情况:
- 三胞体18 (爱德华兹综合征) 是一种与先天性异常相关的遗传性疾病,包括脏形.
- 马是一种常见的异常,其与三形18相关性增加了某些并发症的风险.
- 马赛克三体 18 可能呈现较轻微的表型,但具有较高的瘤风险,特别是威尔姆斯瘤.
研究的目的:
- 报告一个罕见的威尔姆斯瘤病例,该病例发生在一个患有18型三体和马的患者身上.
- 讨论这种特定疾病组合的临床影响和管理策略.
主要方法:
- 病例报告详细说明患者的临床表现,诊断和治疗.
- 关于三体瘤18的文献综述,马脏和威尔姆斯瘤的共同发生.
主要成果:
- 成功管理了一名患有Trisomy 18,马脏和威尔姆斯瘤的儿科患者.
- 在这个患者群体中证明了对威尔姆斯瘤的警监测的重要性.
结论:
- 18型三体瘤,马脏和威尔姆斯瘤的同时发生,带来了独特的管理挑战.
- 多学科护理对于优化这些复杂病例的治疗和治疗结果至关重要.
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