Machado Andreia, Rodrigues Diana, Ferreira Amélia, Dias José, Santos Patrícia
Anaesthesiology, Centro Hospitalar e Universitário de São João, Porto, PRT.
Anesthesiology, Centro Hospitalar e Universitário de São João, Porto, PRT.
Cureus. 2022 Jul 30;14(7):e27474. doi: 10.7759/cureus.27474. eCollection 2022 Jul.
Mucopolysaccharidoses (MPS) are a group of rare inherited metabolic diseases caused by the deficiency of enzymes required to degrade glycosaminoglycans (GAGs) in the lysosome with progressive and multiorgan involvement. Due to its progressive nature, a large number of patients need surgical intervention, which is associated with higher perioperative morbidity.
We retrospectively reviewed 29 medical records regarding the peri and post-operative anaesthetic care of 10 children with mucopolysaccharidoses at a tertiary hospital in Northern Portugal between 2010 and 2021. A comprehensive review of the literature is also included.
Twenty-nine medical records of 10 patients with a mean age of 8.8 years old were included. At the time of the procedure, 65.5% of patients were under enzymatic replacement and all had some type of organ involvement.Each patient was subjected to 2.9 elective procedures on average, with the lowest age of two years at the first procedure. Regarding surgical specialties, 41.4% of interventions were orthopaedic. Balanced anaesthesia with inhalational induction and spontaneous breathing was performed in 48.3% of cases, with no reports of difficult bag-mask ventilation. Endotracheal intubation in the operating room was performed in nine cases. Direct laryngoscopy with a Macintosh blade was the first option in seven patients. Success was achieved only in three cases. Failed intubation was managed with a paediatric C-MAC® video laryngoscope (VLG; one case) and fiberoptic bronchoscopy (two cases). Video laryngoscopy and fibroscopy were the first choices in one case each. Post-operative complications were registered in 10 procedures (34.5%), with airway and pulmonary complications in 17.2%. All complications occurred in different patients except for post-operative nausea and vomiting, which were registered in three cases, two of them in the same patient at different orthopaedic surgical interventions.
The high percentage of direct laryngoscopy could be related to the greater number of interventions performed in a period when indirect methods were not so widely used in anaesthetic practice, and the high rate of failure highlights the importance of transitioning to indirect techniques upon the first attempt. The high percentage of patients under enzymatic treatment can explain the low number of adverse airway events. High-quality evidence regarding MPS is lacking in the literature. Prospective studies would improve the perioperative care of this particular subset of patients.
Patients with MPS represent a huge challenge for the anaesthesiologist, mainly in view of airway management. The integration of all available data in clinical practice is essential to optimize perioperative management of mucopolysaccharidoses patients' management and improve clinical outcomes.
黏多糖贮积症（MPS）是一组罕见的遗传性代谢疾病，由溶酶体中降解糖胺聚糖（GAGs）所需的酶缺乏引起，具有进行性和多器官受累的特点。由于其进行性本质，大量患者需要手术干预，这与较高的围手术期发病率相关。
我们回顾性分析了2010年至2021年期间葡萄牙北部一家三级医院10例黏多糖贮积症患儿围手术期及术后麻醉护理的29份病历。还包括对文献的全面综述。
纳入了10例平均年龄8.8岁患者的29份病历。在手术时，65.5%的患者正在接受酶替代治疗，且均有某种类型的器官受累。每位患者平均接受2.9次择期手术，首次手术时年龄最小为2岁。在外科专科方面，41.4%的干预为骨科手术。48.3%的病例采用吸入诱导和自主呼吸的平衡麻醉，未报告有困难面罩通气情况。9例在手术室进行了气管插管。7例患者首选麦金托什喉镜直接喉镜检查，仅3例成功。插管失败后分别采用小儿C-MAC®视频喉镜（VLG；1例）和纤维支气管镜（2例）处理。视频喉镜和纤维镜检查各有1例作为首选。10例手术（34.5%）记录了术后并发症，气道和肺部并发症占17.2%。除术后恶心和呕吐外，所有并发症均发生在不同患者中，术后恶心和呕吐有3例记录，其中2例发生在同一患者的不同骨科手术中。
直接喉镜检查比例高可能与在麻醉实践中间接方法未广泛应用的时期进行的干预次数较多有关，而高失败率凸显了首次尝试时转向间接技术的重要性。接受酶治疗的患者比例高可以解释气道不良事件数量较少的原因。文献中缺乏关于MPS的高质量证据。前瞻性研究将改善这类特殊患者的围手术期护理。
MPS患者对麻醉医生来说是巨大挑战，主要体现在气道管理方面。在临床实践中整合所有可用数据对于优化黏多糖贮积症患者的围手术期管理和改善临床结局至关重要。
