Bo Ryosuke, Awano Hiroyuki, Yamada Kenji, Ooi Mayu, Okata Yuichi, Bitoh Yuko, Mizobuchi Satoshi, Iijima Kazumoto
Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.
Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan.
Mol Genet Metab Rep. 2021 Apr 19;27:100760. doi: 10.1016/j.ymgmr.2021.100760. eCollection 2021 Jun.
Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD, OMIM 201475) is a congenital fatty acid oxidation disorder. Individuals with VLCADD should avoid catabolic states, including strenuous exercise and long-term fasting; however, such conditions are required when undergoing surgery. The perioperative management of VLCADD in infants has rarely been reported and details regarding the transition of serum biomarkers reflecting catabolic status have not been disclosed. Herein, we present the perioperative clinical and biological data of cryptorchidism in a 1.5-year-old boy with VLCADD. The patient was diagnosed through newborn screening and his clinical course was very stable. Genetic testing of revealed compound heterozygous variants c.506 T > C (p.Met169Thr) and c.606-609delC (p.L216*). The enzyme activity of the patient with VLCAD was only 20% compared to that of healthy control. Left orchiopexy for the pediatric cryptorchidism was planned and performed at 1 and a half year of age. Induction anesthesia involved thiopental, fentanyl and rocuronium. The glucose infusion rate was maintained above 6.6 mg/kg/min starting the day before surgery until the operation was completed. Anesthesia was maintained with sevoflurane at approximately 2%. The serum concentration of tetradecenoylcarnitine were stable during the operation, ranging between 0.08 and 0.19 μM (cutoff <0.2 μM), and never deviated from the reference range. Concentration of other serum biomarkers including free fatty acid, 3-OH-butyrate, and creatine kinase, remained similarly unchanged. In this report, we describe the uneventful perioperative management of unilateral orchiopexy for left cryptorchidism in a 1.5-year-old boy with VLCADD using sufficient glucose infusion and volatile anesthesia.
极长链酰基辅酶A脱氢酶缺乏症（VLCADD，OMIM 201475）是一种先天性脂肪酸氧化障碍疾病。患有VLCADD的个体应避免分解代谢状态，包括剧烈运动和长期禁食；然而，手术时却需要处于这种状态。婴儿VLCADD的围手术期管理鲜有报道，且反映分解代谢状态的血清生物标志物变化细节也未公开。在此，我们呈现了一名1.5岁患有VLCADD的隐睾症男孩的围手术期临床和生物学数据。该患者通过新生儿筛查确诊，其临床病程非常稳定。基因检测发现复合杂合变异c.506 T>C（p.Met169Thr）和c.606 - 609delC（p.L216*）。与健康对照相比，该患者VLCAD的酶活性仅为20%。计划并在1.5岁时为小儿隐睾症实施了左侧睾丸固定术。诱导麻醉使用硫喷妥钠、芬太尼和罗库溴铵。从手术前一天开始直至手术结束，葡萄糖输注速率维持在6.6 mg/kg/min以上。使用约2%的七氟醚维持麻醉。手术期间，十四碳烯酰肉碱的血清浓度稳定，范围在0.08至0.19μM之间（临界值<0.2μM），且从未偏离参考范围。包括游离脂肪酸、3 - 羟基丁酸和肌酸激酶在内的其他血清生物标志物浓度同样保持不变。在本报告中，我们描述了一名1.5岁患有VLCADD的男孩，通过充分的葡萄糖输注和挥发性麻醉对左侧隐睾症进行单侧睾丸固定术时平稳的围手术期管理。
