Kanjia Megha K, Jooste Edmund H, Illig Melissa, Neifeld Capps Jennifer, Eisner Christoph, Fan Shou Zen, Lenarczyk Jerzy, Wojdacz Rafał
Texas Children's Hospital, Houston, Texas, USA.
Baylor College of Medicine, Houston, Texas, USA.
Paediatr Anaesth. 2025 Feb;35(2):99-106. doi: 10.1111/pan.15025. Epub 2024 Oct 22.
Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive disorder that results in a lack of the monoamine neurotransmitters dopamine, serotonin, norepinephrine, and epinephrine. Patients present with a wide spectrum of symptoms, including motor and autonomic dysfunction, hypotonia, and developmental delay, often before the age of one. Until recently, treatment options were limited to symptom control, but the recent approval of the first gene therapy for AADC deficiency in Europe and the UK has provided an alternative to treating symptoms for this disease. Eladocagene exuparvovec is a one-time gene therapy, administered bilaterally to the putamen by magnetic resonance imaging-guided stereotactic neurosurgery. While administration of the gene therapy itself is minimally invasive, the anesthetic management of patients with AADC deficiency is challenging due to the absence of sympathetic regulation secondary to the lack of adrenergic neurotransmitters. Optimal anesthetic management requires an understanding of the complex and heterogeneous nature of the disease. Hemodynamic instability, temperature dysregulation, and hypoglycemia are of primary concern, but there are also challenges regarding intravenous access and airway management. A thorough preoperative assessment is essential and should be guided by the patient's history. Advanced planning is necessary regarding the timing of the procedure schedule and operative plan; meticulous preparation, simulation for the operating room, as well as communication with all perioperative staff members, are crucial. Intraoperatively, utmost care must be taken to protect the skin, maintain body temperature, and to prepare for inotropic and/or glycemic support as needed. Postoperative intensive care management is necessary for consideration of postoperative extubation and provision of supportive care. With careful planning, preparation, and vigilance, patients with AADC deficiency can safely undergo anesthesia.
芳香族L-氨基酸脱羧酶（AADC）缺乏症是一种罕见的常染色体隐性疾病，会导致单胺类神经递质多巴胺、血清素、去甲肾上腺素和肾上腺素缺乏。患者通常在一岁前就会出现广泛的症状，包括运动和自主神经功能障碍、肌张力减退和发育迟缓。直到最近，治疗选择还仅限于症状控制，但欧洲和英国最近批准的首个针对AADC缺乏症的基因疗法为治疗这种疾病提供了替代症状治疗的方法。依拉多卡基因外帕罗韦克是一种一次性基因疗法，通过磁共振成像引导的立体定向神经外科手术双侧注射到壳核。虽然基因疗法本身的给药微创，但由于缺乏肾上腺素能神经递质导致交感神经调节缺失，AADC缺乏症患者的麻醉管理具有挑战性。最佳的麻醉管理需要了解该疾病复杂和异质性的本质。血流动力学不稳定、体温调节异常和低血糖是主要关注点，但在静脉通路和气道管理方面也存在挑战。全面的术前评估至关重要，应根据患者的病史进行指导。对于手术时间表和手术计划的时间安排需要进行提前规划；精心准备、手术室模拟以及与所有围手术期工作人员的沟通至关重要。术中，必须极其小心地保护皮肤、维持体温，并根据需要准备强心和/或血糖支持。术后重症监护管理对于考虑术后拔管和提供支持性护理是必要的。通过精心规划、准备和警惕，AADC缺乏症患者可以安全地接受麻醉。
