Division of Pediatric Hematology-Oncology, Baystate Children's Hospital.
Division of Medicine-Pediatrics, Baystate Children's Hospital.
J Pediatr Hematol Oncol. 2024 Oct 1;46(7):e524-e527. doi: 10.1097/MPH.0000000000002941. Epub 2024 Aug 22.
Acute intermittent porphyria (AIP) causes neurovisceral symptoms and organ toxicity resulting in acute and chronic health conditions. Treatment has traditionally involved avoiding triggers and utilizing carbohydrates and hemin infusions for acute attacks. Givosiran, an FDA-approved small interfering RNA, has shown benefit in adults in reducing attacks. However, its usage in pediatrics is extremely limited. We present a pediatric patient with AIP, requiring frequent hemin infusions for severe attacks, which have a resolution of her disease state and symptoms with the initiation of givosiran therapy.
急性间歇性卟啉症(AIP)可引起神经内脏症状和器官毒性,导致急性和慢性健康状况。传统的治疗方法包括避免诱因和急性发作时使用碳水化合物和血红素输注。已获美国食品药品监督管理局(FDA)批准的小干扰 RNA 药物吉沃西仑(givosiran)已被证明可降低成人发作次数。然而,其在儿科中的应用极为有限。我们报告了一例 AIP 儿科患者,严重发作时需要频繁输注血红素,而吉沃西仑治疗开始后,其疾病状态和症状得到缓解。