磷酸甘油酸激酶缺乏症(PGK1D)是一种罕见的X连锁代谢紊乱,表型可变。PGK1基因的突变导致临床上可变的球形溶血性贫血和中枢神经系统中的可变缺陷。横纹肌溶解症,肌病,偏头痛,和视网膜受累也被报道为临床后果。我们首次描述了X连锁磷酸甘油酸激酶缺乏症患者的麻醉管理,该患者计划进行开放式胃造口术,以促进由于慢性口服厌恶而引起的肠内营养。鉴于涉及的各种器官系统,我们建议进行大量术前检查,并描述我们的术中管理.鉴于有关患有这种疾病的儿童的文献很少,我们认为,该病例报告将是麻醉文献中值得补充的,以帮助指导其他麻醉师处理这种情况的患者。
Phosphoglycerate kinase deficiency (PGK1D) is a rare X-linked metabolic disorder with variable phenotype. Mutations of the PGK1 gene result in clinically variable spherocytic hemolytic anemia and variable defects in the central nervous system. Rhabdomyolysis, myopathy, migraine, and retinal involvement have also been reported as clinical consequences. We describe for the first time the anaesthetic management of a patient with the X-linked phosphoglycerate kinase deficiency scheduled for an open gastrostomy procedure to facilitate enteral nutrition due to chronic oral aversion. Given the various organs systems involved, we suggest a number of preoperative investigations and describe our intraoperative management. Given the paucity of literature regarding children with this condition, we believe this
case report will be a worthwhile addition to the anaesthetic literature to help guide other anaesthetists managing patients with this condition.