重视导致危重症及猝死的潜在遗传代谢病及内分泌疾病

Paying attention to the underlying inherited metabolic disorders and endocrine diseases for the cases of critical illness and sudden death

不明原因猝死综合征是高收入国家儿童死亡的主要原因。猝死可发生在新生儿期至成人,貌似健康的人在日常活动、睡眠或运动中意外死亡,潜在的遗传病是导致心脏性猝死和脑死亡的病因。1977年美国首先关注到不明原因猝死综合征,美国、英国、泰国、日本等国家通过对猝死者的病因研究,证实多种遗传病导致的心脏病、脑病是猝死的两组主要疾病。其中心脏性猝死占一半以上,猝死或猝死样发作也常常是潜在遗传病的首发表现。已知多种遗传代谢病及内分泌疾病可导致猝死,如:原发性肉碱缺乏症、长QT综合征、心律失常、低镁血症、低钾血症、高钾血症、低钙血症、低血糖、线粒体病等。遗传代谢病及内分泌疾病包括氨基酸、有机酸、糖、脂肪等近千种先天性代谢缺陷,其中许多疾患可导致急性危重症甚至猝死。运用生化、电生理、影像、病理和基因诊断等技术,一些疾病可通过新生儿筛查及高危筛查获得早期诊断,通过饮食及药物干预,有望减少意外死亡,降低残障的发生。

Sudden death syndrome is the leading cause of child death in high income countries. It affects neonates to adults. The seemly healthy person suddenly died during a daily activity,sleep or exercise. Underlying genetic disorders are main causes of sudden cardiac death or brain death. Sudden unexplained death syndrome was first noted in 1977 in the United States of America. In some countries such as the United States of America,England,Thailand and Japan,the etiological studies were performed in the cases died suddenly. Those studies showed that heart attack and encephalopathy due to varied genetic disorders are the two major causes. Sudden cardiac death accounts for more than half of the cases. Sudden death or sudden death-like syndrome,would be the first manifestation of underlying inherited metabolic disorders and endocrine disorders,such as primary carnitine deficiency,long QT syndrome,arrhythmia,hypomagnesemia,hypokalemia,hyperkalemia,hypocalcemia,hypoglycemia,mitochondrial diseases,etc. Inherited metabolic disorders and endocrine disorders include thousands of diseases,such as amino acids,organic acids,glucose,fatty acids and electrolytes metabolic disturbance. Some patients presented as acute critical illness and sudden death. Some disorders could be detected by newborn screening or selective screening using biochemical,electrophysiological,imaging,pathological or genetic techniques. The mortality and disability could be reduced by effective intervention of diet and medicine.