摘要
AIM:Tostudytheearlydiagnosisandmanagementoffamilialadenomatouspolyposis(FAP).METHODS:EightpedigreesofFAPwerecollectedandtheirpedigreetreeswereprotracted.ClinicalcharacteristicsandtreatmentoutcomesofFAPpatientsinthesekindredswereanalysed.RESULTS:Atotalof157memberswereinvestigatedineightkindredsand25patientswithFAPwerediagnosed.Theratioofmalepatientsandfemalepatientswas16:9andtheaverageageatonsetwas38years.Amongthem,sixpatientsdiedofcancerwithamortalityrateof28%,and36%(9/25)FAPpatientswerediagnosedassynchronouscolorectalcanceronthebasisofFAP.Aprobandwasdiagnosedassynchronouscolorectalcancerwithlivermetastasisanddied11molaterafterpartialcolectomyandhepaticmetastaticlesionbiopsy.Theothersevenprobandsreceivedtotalabdominalcolectomyandrectalmucosectomywithilealpouch-analanastomosis(IPAA),andoneofthemwasdiagnosedassynchronouscoloncanceronthebasisofFAPandwasstillaliveafter7.5yearsfollow-up.AmongtheothersevenpatientswithsynchronouscolorectalcanceronthebasisofFAPunderwenttotalabdominalcolectomywithileorectalanastomosis(IRA),oneunderwenttotalremnantrectumresectionandileostomyforrecurrentcarcinomaintheretainedrectum2.5yearslateraftertheIRAandwasstillalive,whiletheothersalldiedofrecurrencewithamediansurvivaltimeof4.6years.Throughclosefollow-upandtermlyendoscopicsurveillance,threeFAPpatientsweredetectedbeforepresentingsymptomsattheageof18,20and23years,respectively.ProphylacticIPAAwasperformedandresultsweresatisfactoryafterthepatientswerefollowed-upfor6,1,and8years,respectively.CONCLUSION:Pedigreeinvestigation,closefollow-upandtermlyendoscopicsurveillanceareveryimportantforearlydetectionofFARProphylacticIPAAcangivesatisfactoryresultstoFAPpatients.
出版日期
2004年12月22日（中国期刊网平台首次上网日期，不代表论文的发表时间）
