【作者】 程宇；

【导师】 曾光；

【作者基本信息】 中国疾病预防控制中心 ， 流行病与卫生统计学， 2008， 硕士

【摘要】 [目的]描述大姚县云南不明原因猝死(YSUD)的流行病学分布特征、临床特点和家系分布,为病因假设提供依据。[方法]整理和分析云南不明原因猝死的病例监测系统收集的既往病例和新发病例的相关资料,并开展回顾性不明原因猝死病例调查,描述大姚县YSUD流行病学分布以及临床学特点;开展大姚县YSUD心肌酶专项研究,比较病例村与对照村的疾病生物学指标的差异,探索可能的致病原因;开展大姚县阿基苴家系专项研究,为进一步的遗传学研究提供基础。[结果](1)分布特征1995-2007年,大姚县报告云南不明原因猝死病例49例,其中男性21例,女性28例。①地区分布:大姚县云南不明原因猝死病例分布在大姚2个乡镇、3个村委会、8个自然村,分别为石羊镇叭腊么村委会的阿基苴村,土枧槽村委会的黑泥箐村、葫芦口村、清水河村,以及龙街乡鼠街村委会的张家村、麻栗树村、大沙地村、小沙地村。发病地均为较远的山区、半山区;②时间分布:除2000年、2001年和2005年无病例报告外,1995年到2007年间有十年发病,1998年为猝死高峰年;有明显的季节分布特征(7月和8月病例分别占86%和10%);③人群分布:女性死亡率高于男性(RR=1.5,95%CI:0.84-2.56),10～39岁年龄组死亡率(3.97/1000)高于其他年龄组(x~2=8.46,P=0.004);④聚集性分析:71%为家庭聚集性病例,家庭续发猝死至首例猝死的时间间隔中位数为23小时,村庄继发家庭猝死与首例家庭猝死时间间隔中位数为4天;(2)临床特征起病急骤、死亡突然,急性发病至死亡时间中位数为3小时,其中1小时内死亡,占39%,10分钟内死亡占26%;有主诉者症状多不典型、较为分散,涉及心脏症状、神经性症状和胃肠道症状,51%病例死亡前主诉头晕、恶心、乏力、心慌等症状。以睡眠时发病和死亡最多,分别占22%和26%。捕捉到的心电图异常表现多样,分别是室扑,Q-T间期延长,室颤,左束支传导阻滞,室性心动过速,左室高电压等。除1例无阳性发现,其余3例的心脏均有不同程度的病理改变,主要有局灶性心肌炎,右室前壁和心尖脂肪浸润,致心律失常性右室心肌病等。心脏的组织学特征主要表现为炎症细胞浸润和脂肪浸润。(3)心肌酶专项研究对大姚县阿基苴村和对照村人群的各次检测中,4个心肌酶指标异常率均较高,依次是CK-MB、CK、HBDH、LDH,阿基苴村异常率高于3个对照村,CK-MB/CK均大于正常值5%。CK-MB高于上限值1倍以上异常率最高高达100%,2倍及以上最高高达33.33%,最高值高于上限5倍。CK高于上限值1.5倍及以上异常率最高高达57.14%,最高值高于上限4倍。阿基苴村HBDH高于上限值1.5-2倍异常率最高高达20.83%,最高值高于上限2.36倍,LDH高于上限值1.5-2倍异常率最高高达12.50%,最高值高于上限1.5倍,阿基苴村人群恢复期LDH、HBDH水平较急性期明显下降。(4)家系专项研究阿基苴29例云南不明原因猝死者分布在6个家系;对6个有猝死病例的家系进行系统的家系调查,显示家系5是发生云南不明原因猝死的大家系,四代共43名家庭成员发生猝死12例,是典型的云南不明原因猝死的聚集家庭;阿基苴村的婚配关系复杂,在家系5和家系6中均存在近亲结婚的现象,出现1例,姑侄同居的现象。系谱图分析无法得出典型或具体的遗传模式,不符合孟德尔遗传方式,但又显示与遗传因素密切相关,提示该病可能是多基因遗传病,需要进一步的工作加以证实。[结论]①大姚县云南不明原因猝死具有高度的时空聚集性。②大姚县云南不明原因猝死有明显的心脏损害。③大姚县阿基苴村系谱图不符合孟德尔遗传方式。更多还原

【Abstract】 [Obejective] To seek some possible clues of the causes and give an elementary etiological hypothesis, based on describing the epidemiological distribution and clinical characteristics of Yunnan DaYao sudden unexplained death (YSUD) in detail.[Methods] A surveillance system was developed to collect the information of new and old YSUD cases, in order to analyze the distribution of time, regional and population and clinical characteristics. The study of Cardiac enzyme was conducted to compare the difference between the case village and the control village. The study of pedigree was conducted for the further genetic analysis. [Results](1) Distribution and clinical characteristicsThere were 49 cases in 8 villages of DayaoYunnan province from 1995 to 2007.①Regional distribution: YSUD often happened in some villages in north-center of the province, and most of clustering cases occurred in altitude of 2100～2300m.②Time distribution: Increasing tendency appeared in recent years, and most of cases emerged in July and August.③Population distribution: Young minority people, especially female,were susceptible population.④Clinical characteristics: Typical characters were rapid-onset and sudden death, 39 percent cases died in one hour. The prodrome occurred in few patients, but in acute period some patients felt dizzy, chest tightness, flustered, malaise, and so on.(2) The study of Cardiac enzymeThe Cardiac enzyme was abnormal in the case village and some control villages during the epidemic time and the non-epidemic time, which implied that there were risk factors to the hearts.(3)The study of pedigreeThe 29 YSUDs of the Ajizhu villiage distributed in 6 families. Out of the 6 families the no. 5 families had the most YUSD patients, that is to say, there were 12 YUSDs of the 43 family members. Besides, there were consanguineous marriage in the villiage. There were not enough evidence for existing etiological hypotheses, such as heart diseases and biologic toxic mushroom poisoning. However, according to the disease pattern, we provide a reasonable hypothese for further study.[Conclusions]①The household and village clustering of YSUD did exist.②There was severe heart damage in the YSUD region.③The pedigree of the Ajizhuo villiage was not the typical way.更多还原