复发性急性胰腺炎的临床研究和易感基因筛查

发布时间：2018-03-03 07:35

本文选题：慢性胰腺炎　切入点：急性复发性胰腺炎　出处：《第二军医大学》2017年硕士论文　论文类型：学位论文

【摘要】：第一部分复发性急性胰腺炎的临床特征分析目的:复发性急性胰腺炎的临床发病率高。临床表现为急性胰腺炎的反复发作,不仅给患者带来极大的痛苦,也给社会带来极大的医疗负担。本研究的目的是分析总结复发性急性胰腺炎的临床特征,探寻其和慢性胰腺炎临床特点的异同。方法:收集和随访2016年1月至2016年7月之间,上海长海医院收治的复发性急性胰腺炎及慢性胰腺炎患者临床资料,建立前瞻性队列研究,分析患者的临床资料,比较两者临床特点的联系与差异。结果:1、在100例RAP和101例CP患者中,男性发病率为69%和60.4%。2、两组的平均起病年龄是38.27岁vs20.72岁;青少年占比为12%vs38.6%。3、两组糖尿病发生率49.5%vs9%;脂肪泻发生率是46.6%vs19%。4、RAP患者CP的1年累计发病率为2%,3年累积发病率为4.6%,5年的累积发病率为12.4%。结论:1、RAP组和CP组中,男性发病率都高于女性2、CP的首次起病年轻更早。青少年发病率更高3、发生糖尿病和脂肪泻的合并症方面,CP的发生率更高。4、部分的RAP会进展成CP。第二部分复发性急性胰腺炎的易感基因筛查目的:对于病因不明的复发性急性胰腺炎难以防控,国际上对本病的研究并不充分。本研究的通过对入组的患者进行易感基因筛查,初步建立我国患者人群的遗传特征数据库,探寻潜在的致病位点,对该病的诊治提供新的理论基础和研究思路。方法:收集了2016年1月至2017年1月间长海医院消化内科就诊的IRAP患者的临床资料和测序样本。所有病例依据入选/剔除标准纳入研究。对所有样本进行高通量测序,涉及27个基因,并根据现在公认的遗传数据库资源对测序结果进行初步统计分析。结果:检测到21个基因的128个位点突变;通过与1000G数据库的对比统计分析,初步筛选潜在8个易感基因突变:SPINK1基因的剪接区、CTSB、PCSK9、CASR、FUT2、ANK3、GGT1、SEC16A;通过与Ex AC数据库的对比统计分析,初步发现潜在易感基因有8个,包括:SPINK1、CFTR、CTSB、PCSK9、FUT2、ANK3、GGT1、SEC16A。结论:1、IRAP的基因突变分布有一定集中趋势,并且能够找到潜在的易感基因。2、更多的研究需要开展来验证这些易感基因的功能。
[Abstract]:Part I Clinical characteristics of recurrent acute pancreatitis objective: the clinical incidence of recurrent acute pancreatitis is high. The clinical manifestations of recurrent acute pancreatitis not only bring great suffering to patients, The purpose of this study was to analyze and summarize the clinical features of recurrent acute pancreatitis and to explore the similarities and differences between the clinical characteristics of recurrent acute pancreatitis and that of chronic pancreatitis. Methods: collect and follow up the clinical features between January 2016 and July 2016. A prospective cohort study was established to analyze the clinical data of patients with recurrent acute pancreatitis and chronic pancreatitis treated in Shanghai Changhai Hospital. Results the incidence of RAP and CP was 69% and 60.40.2. the mean onset age of the two groups was 38.27 vs20.72 years. The proportion of adolescents was 12vs38.6.3.The incidence of diabetes in the two groups was 49.5%, and the incidence of fat diarrhea was 46.6 vs 19.4The cumulative incidence of CP in patients with Rap was 2 in one year, 4.6 in 3 years, and 12.4in 5 years. Conclusion in the% 1 rap group and CP group, The incidence rate of male is higher than that of female 2CP. The incidence rate of adolescent is higher than that of female. The incidence of diabetes mellitus and fatty diarrhea is higher. 4. 4, part of RAP will progress to CP.The second part is recurrent acute. Objective: to prevent and control recurrent acute pancreatitis with unknown etiology. The international research on this disease is not sufficient. In this study, by screening the susceptible genes of the patients in our group, we have preliminarily established the database of genetic characteristics of Chinese patients to explore the potential pathogenicity sites. Methods: from January 2016 to January 2017, clinical data and sequencing samples of IRAP patients in the Department of Digestive Medicine of Changhai Hospital were collected. Exclusion criteria were included in the study. All samples were high-throughput sequenced. Results: 128 locus mutations of 21 genes were detected and compared with 1000G database. Preliminary screening of the splicing region of 8 potential susceptibility genes, CTSBT, PCSK9, CASRS, FUT2ANK3, GGT1, SEC16A, and comparison with Ex AC database showed that there were 8 potential susceptibility genes, including SPINK1 CFTRCTSBPCSK2ANK3 / G1IRAP SEC16A1.Conclusion: 1 IRAP has a certain concentration trend. And potential susceptibility genes. 2 can be found, and more research needs to be done to verify the function of these susceptibility genes.
【学位授予单位】：第二军医大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R576

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