遗传性代谢病中的糖代谢急症

doi:10.12372/jcp.2022.23e0263

摘要/Abstract

摘要：

遗传性代谢病中的糖代谢急症主要表现为酮症性低血糖，在碳水化合物摄入不足或未进食的情况下患儿出现嗜睡、脑病甚至猝死，部分患儿伴有肝功能衰竭、运动障碍或者心功能障碍等急症。患儿通过DNA分析和/或对培养的皮肤成纤维细胞、肝、白细胞或红细胞中酶活性的检测得到确诊。积极处理低血糖、代谢性酸中毒，给予必要的呼吸和循环支持治疗、控制感染、肝脏支持治疗以及其他相对特异性治疗或者酶替代疗法是急症救治的关键。

关键词: 糖代谢, 急症, 低血糖, 儿童

Abstract:

The main manifestation of carbohydrate metabolic emergencies in inborn errors of metabolism is ketotic hypoglycemia. In the case of insufficient carbohydrate intake or fasting, children may have drowsiness, encephalopathy and even sudden death, and some children are accompanied by liver failure, dyskinesia or cardiac dysfunction. The diagnosis was confirmed by DNA analysis and/or detection of enzyme activity in cultured skin fibroblasts, liver cells, white blood cells, or red blood cells. Management of hypoglycemia and metabolic acidosis, provision of ventilatory and circulatory support, treatment of infection, liver replacement therapy, and other relatively specific treatments or enzyme replacement therapy are the keys to save the life.

Key words: glucose metabolism, emergency, hypoglycemia, child

许巍. 遗传性代谢病中的糖代谢急症[J]. 临床儿科杂志, 2023, 41(6): 411-416.

XU Wei. Carbohydrate metabolic emergencies in inborn errors of metabolism[J]. Journal of Clinical Pediatrics, 2023, 41(6): 411-416.

图/表 1

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