在患有腹痛和十二指肠扩张的儿科患者中遗传性血管炎
Mawada Abbaker1, Yaseen Rafe'e2, Irma Zamir2
1Pediatric, Hurley Medical Centre, Flint, Michigan, USA mabbake1@hurleymc.com.
BMJ case reports
|July 5, 2025
概括
遗传性血管 (HAE) 是一种罕见的遗传性疾病,会引起胀和疼痛. 早期诊断和治疗,如C1-INH替代剂或lanadelumab,对于儿童的HAE管理至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 免疫学 免疫学 免疫学
- 儿科 儿科 儿科
背景情况:
- 遗传性血管炎 (HAE) 是一种罕见的遗传性疾病,大约影响每5万个人的1人,其特点是经常出现胀.
- 这种情况是由于C1-雌激酶抑制剂 (C1-INH) 缺乏或功能障碍导致的,导致无法控制的炎症.
- HAE通常在儿童时期表现出来,表现为严重的腹痛和吐等症状.
研究的目的:
- 突出考虑小儿科患者有未解释的腹部症状时HAE的重要性.
- 举例来说明,在一个有相关家族病史的儿童中诊断出1型HAE的病例.
- 讨论儿童患者中HAE的成功急性和预防性治疗策略.
主要方法:
- 病例报告详细介绍了一名中年童年男孩,患有严重的腹痛和吐.
- 对家族病史的审查显示了与HAE.一致的模式.
- 实验室证实1型HAE的存在.
- 用C1-INH替代剂 (Berinert) 进行急性治疗,并开始用lanadelumab进行长期预防.
主要成果:
- 患者的急性症状已经成功地用Berinert进行了管理.
- 为了HAE管理,启动了用lanadelumab的长期预防.
- 该病例证实了儿科HAE的家族病史和实验室发现的诊断价值.
结论:
- 在出现无法解释的腹部症状的儿童中,特别是在有家族病史的儿童中,应考虑遗传性血管.
- 及时诊断和适当的治疗,包括C1-INH替代和针对性疗法,如lanadelumab,对于管理HAE至关重要.
- 儿童HAE病例的早期干预可以显著改善患者的治疗结果,并预防严重的并发症.
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