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復(fù)發(fā)性急性胰腺炎的臨床研究和易感基因篩查

發(fā)布時(shí)間:2018-03-03 07:35

  本文選題:慢性胰腺炎 切入點(diǎn):急性復(fù)發(fā)性胰腺炎 出處:《第二軍醫(yī)大學(xué)》2017年碩士論文 論文類型:學(xué)位論文


【摘要】:第一部分復(fù)發(fā)性急性胰腺炎的臨床特征分析目的:復(fù)發(fā)性急性胰腺炎的臨床發(fā)病率高。臨床表現(xiàn)為急性胰腺炎的反復(fù)發(fā)作,不僅給患者帶來極大的痛苦,也給社會(huì)帶來極大的醫(yī)療負(fù)擔(dān)。本研究的目的是分析總結(jié)復(fù)發(fā)性急性胰腺炎的臨床特征,探尋其和慢性胰腺炎臨床特點(diǎn)的異同。方法:收集和隨訪2016年1月至2016年7月之間,上海長海醫(yī)院收治的復(fù)發(fā)性急性胰腺炎及慢性胰腺炎患者臨床資料,建立前瞻性隊(duì)列研究,分析患者的臨床資料,比較兩者臨床特點(diǎn)的聯(lián)系與差異。結(jié)果:1、在100例RAP和101例CP患者中,男性發(fā)病率為69%和60.4%。2、兩組的平均起病年齡是38.27歲vs20.72歲;青少年占比為12%vs38.6%。3、兩組糖尿病發(fā)生率49.5%vs9%;脂肪瀉發(fā)生率是46.6%vs19%。4、RAP患者CP的1年累計(jì)發(fā)病率為2%,3年累積發(fā)病率為4.6%,5年的累積發(fā)病率為12.4%。結(jié)論:1、RAP組和CP組中,男性發(fā)病率都高于女性2、CP的首次起病年輕更早。青少年發(fā)病率更高3、發(fā)生糖尿病和脂肪瀉的合并癥方面,CP的發(fā)生率更高。4、部分的RAP會(huì)進(jìn)展成CP。第二部分復(fù)發(fā)性急性胰腺炎的易感基因篩查目的:對(duì)于病因不明的復(fù)發(fā)性急性胰腺炎難以防控,國際上對(duì)本病的研究并不充分。本研究的通過對(duì)入組的患者進(jìn)行易感基因篩查,初步建立我國患者人群的遺傳特征數(shù)據(jù)庫,探尋潛在的致病位點(diǎn),對(duì)該病的診治提供新的理論基礎(chǔ)和研究思路。方法:收集了2016年1月至2017年1月間長海醫(yī)院消化內(nèi)科就診的IRAP患者的臨床資料和測序樣本。所有病例依據(jù)入選/剔除標(biāo)準(zhǔn)納入研究。對(duì)所有樣本進(jìn)行高通量測序,涉及27個(gè)基因,并根據(jù)現(xiàn)在公認(rèn)的遺傳數(shù)據(jù)庫資源對(duì)測序結(jié)果進(jìn)行初步統(tǒng)計(jì)分析。結(jié)果:檢測到21個(gè)基因的128個(gè)位點(diǎn)突變;通過與1000G數(shù)據(jù)庫的對(duì)比統(tǒng)計(jì)分析,初步篩選潛在8個(gè)易感基因突變:SPINK1基因的剪接區(qū)、CTSB、PCSK9、CASR、FUT2、ANK3、GGT1、SEC16A;通過與Ex AC數(shù)據(jù)庫的對(duì)比統(tǒng)計(jì)分析,初步發(fā)現(xiàn)潛在易感基因有8個(gè),包括:SPINK1、CFTR、CTSB、PCSK9、FUT2、ANK3、GGT1、SEC16A。結(jié)論:1、IRAP的基因突變分布有一定集中趨勢,并且能夠找到潛在的易感基因。2、更多的研究需要開展來驗(yàn)證這些易感基因的功能。
[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.
【學(xué)位授予單位】:第二軍醫(yī)大學(xué)
【學(xué)位級(jí)別】:碩士
【學(xué)位授予年份】:2017
【分類號(hào)】:R576

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