Shenkman Z, Golub Y, Meretyk S, Shir Y, Landau D, Landau E H
Department of Anesthesiology, Hadassah University Hospital, Jerusalem, Israel.
Can J Anaesth. 1996 May;43(5 Pt 1):467-70. doi: 10.1007/BF03018108.
A rare case of a ten-year old patient with type 1b glycogen storage disease (GSD), scheduled for extracorporeal shockwave lithotripsy (ESWL), is described.
Patients with type 1b GSD manifest a range of clinical symptoms, including mental retardation, hepatosplenomegaly, renal enlargement, stomatitis, hypoglycaemic convulsions, bleeding diathesis, lactic acidosis and leukopaenia, thus creating a challenge for the anaesthetist. Following preanaesthetic administration of glucose-containing fluids, general anaesthesia was induced and the patient was mechanically ventilated. Except for mild hypoglycaemia after induction of anaesthesia, and moderate intraoperative metabolic acidosis which was attributed to the underlying disorder, anaesthesia was uneventful. No postoperative complications occurred and the patient was discharged home three days after lithotripsy. Clinical features of this rare inborn error of metabolism are reviewed and the approach for the anaesthetic management is discussed.
A skillful perioperative management of patients with type 1b GSD can be achieved by cautious attention to the metabolic and homeostatic derangements that occur with the disease.
描述一例10岁1b型糖原贮积病（GSD）患者计划进行体外冲击波碎石术（ESWL）的罕见病例。
1b型GSD患者表现出一系列临床症状，包括智力发育迟缓、肝脾肿大、肾肿大、口腔炎、低血糖惊厥、出血倾向、乳酸酸中毒和白细胞减少，这给麻醉师带来了挑战。在麻醉前给予含葡萄糖液体后，诱导全身麻醉并对患者进行机械通气。除麻醉诱导后出现轻度低血糖以及术中因基础疾病导致中度代谢性酸中毒外，麻醉过程顺利。术后未发生并发症，患者在碎石术后三天出院。本文回顾了这种罕见的先天性代谢缺陷的临床特征，并讨论了麻醉管理方法。
通过谨慎关注该疾病伴随的代谢和内环境紊乱，可实现对1b型GSD患者的熟练围手术期管理。
