儿童和青少年遗传性血管性水肿(HAE):新的治疗方案。

Allergologie select Pub Date : 2024-10-30 eCollection Date: 2024-01-01 DOI:10.5414/ALX02532E
Maria Fasshauer, Bettina Wedi
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摘要

由于 C1 抑制剂(C1-INH)功能或浓度降低而导致的遗传性血管性水肿(HAE)(HAE-C1-INH)的现代治疗方法侧重于个体化治疗策略,以满足儿童和青少年的特殊需求以及疾病的严重程度。疾病和治疗对生活质量和参与度造成的负担等社会心理因素也起着重要作用。新药已经大大改善了 HAE 患者的预后和与健康相关的生活质量,但并非所有这些疗法都已获准用于儿童。目前正在研究抑制缓激肽效应的其他治疗方案。它们以因子 XIIa、prekallikrein、血浆缓激肽或缓激肽 B2 受体为靶点。现代研究的重点是口服选择或长效肠外治疗方法,以进一步优化护理,尤其是满足儿童的需求。基因治疗领域也有了初步发展,这可能是未来治疗 HAE 的一种因果疗法。本文重点介绍儿童和青少年 HAE I 型(C1-INH 浓度降低)和 HAE II 型(C1-INH 功能受损)的表现和治疗方法。获得性 AE 和 C1-INH 正常的 HAE 在儿童年龄组中较为罕见,本文不作详细讨论。
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Hereditary angioedema (HAE) in children and adolescents: New treatment options.

Modern management of hereditary angioedema (HAE) due to reduced C1 inhibitor (C1-INH) function or concentration (HAE-C1-INH) focuses on individualized therapeutic strategies to address the specific needs of children and adolescents as well as the severity of the disease. Psychosocial factors such as the burden of disease and therapy on quality of life and participation play an important role. New medications have already significantly improved the prognosis and health related quality of life in HAE patients, but not all of these therapies have yet been approved for children. Further treatment options that inhibit bradykinin effects are currently being investigated. They target factor XIIa, prekallikrein, plasma kallikrein, or the bradykinin B2 receptor. Modern research focuses on oral options or long-acting parenteral therapy approaches to further optimize care and, in particular, the needs of children. There are also initial developments in the field of gene therapy, which could represent a causal treatment option for HAE in the future. This article focuses on the presentation and treatment of HAE type I (reduced C1-INH concentration) and HAE type II (impaired C1-INH function) in children and adolescents. Acquired AE and HAE with normal C1-INH are rare in the pediatric age group and are not discussed in detail here.

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