Paying attention to the underlying inherited metabolic disorders and endocrine diseases for the cases of critical illness and sudden death / 中国实用儿科杂志

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.

Epidemiological Characters of Yunnan Sudden Death Syndrome and Its Research Progress / 法医学杂志

Yunnan sudden death syndrome (YSDS) is an abruptly fatal disease of unknown etiology, found mostly in central or northwestern mountain area (with altitude between 1 815 and 2 225 meters ) of Yunnan province from June to September every year. It occurs mostly in young female adults, with high incidences in Lisu, Yi and Miao ethnics and high familial aggregation. The clinical manifestation of YSDS is changeful and the pathological characteristic is lack of specificity. The pathogenesis may be at-tributed to several factors including poor hygiene and lower socioeconomic conditions, lack of Selenium or Chromium, infection of Coxsackie B virus, mushroom consumption and special geological conditions. This article reviews the epidemiologic features, clinical manifestations, pathological features, etiology and hypothesis in order to provide clues for the research of YSDS.