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Association Study And Clinical Analysis Of Primary Intrahepatic Lithiasis With Cftr Gene Polymorphism In Fujian Province

Posted on:2020-03-24Degree:MasterType:Thesis
Country:ChinaCandidate:X MeiFull Text:PDF
GTID:2404330623954944Subject:Internal Medicine
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Part One:Clinical Characteristics of 104 Patients with Primary Intrahepatic Lithiasis in Fujian ProvinceObjective:To observe and analyze the pathogenesis and clinical characteristics of Primary Intrahepatic Lithiasis(PIL).Methods:104 cases of Primary Intrahepatic Lithiasis in Fujian Province were observed.In this retrospective cohort study we collected basic information,medical history data and inspection results of patients and investigated the pathogenesis and clinical characteristics,and the risk factors for PIL in this area.Results:34 cases(32.69%)of the 104 patients were male and 70 cases(67.31%)were female,with a male to female ratio of 1:2.04.The mean age of the 104 patients was59.32±14.35 years old.The age group with the highest incidence of PIL was 41 to60 years old,which had 41 cases(39.43%).The proportion of cases from rural area was higher than that from urban area.The percentage of patients with intrahepatic bile duct stones in the left and right lobe were highest 55 cases(52.88%),followed by bile duct stones in the left lobe(32 cases,30.77%)and in the right lobe(17 cases,16.35%).The common clinical symptoms include repeated abdominal pain 72 cases(72.12%),recurrent fever 42 cases(40.38%),nausea and vomiting19 cases(18.27%).66 cases(63.46%)of PIL patients underwent invasive treatments such as surgery and choledochoscopy.More than 1/4(29 patients)underwent multiple invasive procedures to remove stones,and the shortest recurrence time after surgery was one month.The body mass index(?~2=13.628,P<0.05),place of residence(?~2=7.830,P<0.05),and stone distribution(?~2=7.972,P<0.05)were significantly different between the secondary infection group and uninfectded group of PIL.Conclusion:?The age with peak PIL incidence in Fujian Province is 41-60 years old.Women are susceptible to PIL,and the stones is prone to occur in the left lobe of the liver.?Body mass index,living conditions,and stone distribution were the risk factors for the biliary infection caused by PIL.Part two:Association between Primary Intrahepatic Lithiasis and CFTR gene Polymorphism in Patients from Fujian ProvinceObjective:To investigate the relationship between the common polymorphism of CFTR gene and the incidence of primary intrahepatic lithiasis in Fujian Province.Methods:104 cases of PIL in Fujian Province diagnosed from June 2018 to November 2018 at the Hepatobiliary Center of 900 Hospital of Joint Logistics Unit(former Fuzhou General Hospital)were divided as the case group,and 120 healthy subjects in the same area were as the control group.Using the first-generation sequencing technique to detect the polymorphisms of M470V,TG-repeats and Poly-T on CFTR gene,and using genetic statistical methods to analyze the association between alleles and their genotypes at three loci with the pathogenesis of PIL.Results:Both the haploid genotype and the individual genotype at the TG-repeats and Poly-T sites were consistent with the Hardy-Weinberg equilibrium.After correction H-W equilibrium of the M470V locus which was deviating from the H-W equilibrium,we found that the patients with genotype including the mutated base G had an increased risk of developing PIL compared to the AA homozygous(OR>1).The AA and AG genotypes at the M470V locus of CFTR gene were significantly different between the study group and the control group(P<0.01).The allele and genotypes of TG-repeat and Poly-T were not statistically different between the two groups(P>0.05).The distribution of M470V,TG-repeats and Poly-T genotypes in the control group and the study group were similar to those detected in healthy Chinese population.Conclusion:?The M470V polymorphisms of CFTR gene is significantly correlated with the risk of primary intrahepatic lithiasis in Fujian Province.?There was no significant correlation between the TG-repeats and Poly-T polymorphisms of the CFTR gene and the risk of PIL in this study.
Keywords/Search Tags:primary intrahepatic lithiasis, clinical features, CFTR gene polymorphism, Hardy-Weinberg balance, risk of onset
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