在一个患有努南综合征的6天大的男孩身上出现Abernethy形 (II型):一个病例报告
Yujuan Wang1,2, Wei Wang1, Xiaoru Wang1
1Department of Pediatric intensive care unit, Shandong Provincial Hospital Affiliated to Shandong First Medical University, No. 324, Jingwu Road, Huaiyin District, Jinan, 250021, Shandong Province, P. R. China.
BMC pediatrics
|July 11, 2025
概括
艾伯内蒂形 (AM) 和努南综合征 (NS) 可以同时发生. 通过成像和基因检测进行早期诊断,然后进行手术干预,可显著改善受影响婴儿的结果.
科学领域:
- 医学遗传学 医学遗传学
- 血管外科 血管外科
- 儿童心脏病学 儿童心脏病学
背景情况:
- 艾伯尼西形 (AM) 是一种罕见的先天性血管异常,涉及异常的脊柱静脉排水.
- 努南综合征 (NS) 是一种与各种身体异常和发育问题相关的遗传疾病.
- 在AM和NS的同时出现会带来复杂的诊断和管理挑战.
研究的目的:
- 描述临床表现,诊断过程和新生儿同时患有Abernethy形和Noonan综合征的管理.
- 突出承认AM和NS在RASopathies之间的关联的重要性.
- 强调及时干预在改善患者治疗结果中的作用.
主要方法:
- 在初次怀疑AM时进行产前超声波.
- 使用增强型计算机断层扫描 (CT) 和磁共振 (MR) 影像进行产后确认.
- 整体外基因组测序 (WES) 用于诺南综合征的遗传诊断,识别LZTR1基因变异.
- laparoscopic portosystemic shunt ligation用于AM管理. 这是一个非常好的方法.
主要成果:
- 这名患者被诊断为II型阿伯内蒂形和努南综合征.
- 在随访期间观察到肝酶的逐渐升高和高氨血症.
- 在六个月大时进行的腹腔镜移植系统的分流结合导致了快速的生物化学正常化.
- 在术后观察到持续的临床改善.
结论:
- 临床医生应该怀疑AM和NS在RASopathies的患者.
- 包括门静脉系统成像在内的全面血管评估对于早期诊断至关重要.
- 涉及遗传学家,放射学家和外科医生的多学科方法对于这些复杂病例的最佳管理至关重要.
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