对班纳扬 - 里利 - 鲁瓦尔卡巴综合征的系统审查
Medeinė Kapačinskaitė1, Natalia Stratica2, Irina Adomaitienė3
1Faculty of Medicine, Vilnius University, M.K. Čiurlionio g. 21, 03101, Vilnius, Lithuania. medeine.kapac@gmail.com.
Scientific reports
|September 10, 2024
概括
班纳扬-莱利-鲁瓦尔卡巴综合征 (BRRS) 是一种PTEN hamartoma瘤综合征,呈现各种症状,如大脑症. 由于有限的向治疗,早期遗传转诊和监测至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 罕见疾病 罕见疾病
背景情况:
- 班纳扬-莱利-鲁瓦尔卡巴综合征 (BRRS) 是一种罕见的遗传过度生长疾病,与PTEN基因变异相关,是PTEN hamartoma瘤综合征 (PHTS) 的一部分.
- 由于显著的表型变异性,诊断具有挑战性.
- 目前对BRRS的治疗选择有限.
结论:
- 早期识别BRRS症状和及时转诊给遗传学家对于改善疾病管理和患者的治疗结果至关重要.
- 缓解症状和持续监测是目前管理BRRS的基石策略,等待向治疗.
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