Lauro Christine F, Goldbach-Mansky Raphaela, Schmidt Margaret, Quezado Zenaide M N
Department of Anesthesia and Surgical Services, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD 20892-1512, USA.
Anesth Analg. 2007 Aug;105(2):351-7. doi: 10.1213/01.ane.0000270764.99119.1b.
Neonatal-onset multi-system inflammatory disease (NOMID), a rare autosomal dominantly inherited disease, belongs to a growing spectrum of autoinflammatory diseases, is characterized by urticarial rash, arthropathy, and chronic aseptic meningitis, and is associated with mutations in the cold-induced autoinflammatory gene, CIAS1, the gene that encodes the protein, cryopyrin. As little is known about the anesthetic considerations of the disease, we sought to identify the main features and respective anesthetic and perioperative implications of NOMID.
We examined perianesthetic records of children with NOMID who were anesthetized for invasive diagnostic and therapeutic interventions between 2003 and 2006. In addition, we conducted an extensive literature review of the genetic, clinical, and biochemical abnormalities of the disease.
Seventeen children with NOMID (median age 8 yr, range 9 mo to 11 yr) were anesthetized for diagnostic and therapeutic procedures. All patients had neurological involvement, including increased intracranial pressure, chronic aseptic meningitis, and developmental delay; 7 had bony overgrowth, 15 ocular, and 14 otological manifestations of NOMID. Despite the complexity of the disease, the perioperative course was uncomplicated, and no serious adverse events were observed.
This study is the first to investigate the anesthetic implications of NOMID, an autoinflammatory disease associated with arthropathy, recurrent fevers, urticarial rash, and chronic aseptic meningitis. While for the pediatric anesthesiologist, the presence of fever and aseptic meningitis might make the conduct of anesthetics for elective procedures less desirable, our findings suggest that without evidence of active infection, even in the presence of fever and chronic aseptic meningitis, general and regional anesthesia may be conducted in patients with NOMID without untoward complications.
新生儿期起病的多系统炎症性疾病（NOMID）是一种罕见的常染色体显性遗传病，属于不断增多的自身炎症性疾病谱，其特征为荨麻疹样皮疹、关节病和慢性无菌性脑膜炎，与冷诱导自身炎症基因CIAS1（编码蛋白冷吡啉的基因）突变有关。由于对该疾病的麻醉注意事项知之甚少，我们试图确定NOMID的主要特征以及相应的麻醉和围手术期影响。
我们查阅了2003年至2006年间因侵入性诊断和治疗干预而接受麻醉的NOMID患儿的围麻醉期记录。此外，我们对该疾病的遗传、临床和生化异常进行了广泛的文献综述。
17例NOMID患儿（中位年龄8岁，范围9个月至11岁）接受了诊断和治疗程序的麻醉。所有患者均有神经系统受累，包括颅内压升高、慢性无菌性脑膜炎和发育迟缓；7例有骨质过度生长，15例有眼部表现，14例有NOMID的耳部表现。尽管疾病复杂，但围手术期过程顺利，未观察到严重不良事件。
本研究首次探讨了与关节病、反复发热、荨麻疹样皮疹和慢性无菌性脑膜炎相关的自身炎症性疾病NOMID的麻醉影响。虽然对于小儿麻醉医生来说，发热和无菌性脑膜炎的存在可能使择期手术的麻醉实施不太理想，但我们的研究结果表明，在没有活动性感染证据的情况下，即使存在发热和慢性无菌性脑膜炎，NOMID患者也可进行全身麻醉和区域麻醉，且无不良并发症。
