{"title":"遗传学在原发性胆汁性肝硬化中的作用在三姐妹的介绍下","authors":"T. Temel, P. Yildiz, A. Özakyol","doi":"10.29333/EJGM/81913","DOIUrl":null,"url":null,"abstract":"Objective:There is growing evidence of genetic susceptibility and environmental factors lead to primary biliary cirrhosis (PBC). In particular, family members of an\ninfected individual can have higher risk of developing PBC. Here we present two of three siblings who did not have any clinical symptoms.Case:Three siblings, who are 44, 53 and 51 years old respectively, were diagnosed as PBC. One of them excepted and the others were asymptomatic and the 44 yearsold\nwomen has a known results of PBC such as icteric sclera, ascites, prolonged prothrombin time, elevated INR and splenomegaly. On the contrary, other two sibling\ndid not have symptoms associated with PBC but the screening tests diagnosed PBC.Discussion:In conclusion that familial PBC is not rare, that it is related to maternally inherited factors. PBC may be initially asymptomatic and therefore family\nscreening is important in the early diagnosis and treatment.","PeriodicalId":12017,"journal":{"name":"European journal of general medicine","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2018-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Role of genetics in the Primary Biliary Cirrhosis; withthe presentation of the three sisters\",\"authors\":\"T. Temel, P. Yildiz, A. Özakyol\",\"doi\":\"10.29333/EJGM/81913\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Objective:There is growing evidence of genetic susceptibility and environmental factors lead to primary biliary cirrhosis (PBC). In particular, family members of an\\ninfected individual can have higher risk of developing PBC. Here we present two of three siblings who did not have any clinical symptoms.Case:Three siblings, who are 44, 53 and 51 years old respectively, were diagnosed as PBC. One of them excepted and the others were asymptomatic and the 44 yearsold\\nwomen has a known results of PBC such as icteric sclera, ascites, prolonged prothrombin time, elevated INR and splenomegaly. On the contrary, other two sibling\\ndid not have symptoms associated with PBC but the screening tests diagnosed PBC.Discussion:In conclusion that familial PBC is not rare, that it is related to maternally inherited factors. PBC may be initially asymptomatic and therefore family\\nscreening is important in the early diagnosis and treatment.\",\"PeriodicalId\":12017,\"journal\":{\"name\":\"European journal of general medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-01-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European journal of general medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.29333/EJGM/81913\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European journal of general medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.29333/EJGM/81913","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Role of genetics in the Primary Biliary Cirrhosis; withthe presentation of the three sisters
Objective:There is growing evidence of genetic susceptibility and environmental factors lead to primary biliary cirrhosis (PBC). In particular, family members of an
infected individual can have higher risk of developing PBC. Here we present two of three siblings who did not have any clinical symptoms.Case:Three siblings, who are 44, 53 and 51 years old respectively, were diagnosed as PBC. One of them excepted and the others were asymptomatic and the 44 yearsold
women has a known results of PBC such as icteric sclera, ascites, prolonged prothrombin time, elevated INR and splenomegaly. On the contrary, other two sibling
did not have symptoms associated with PBC but the screening tests diagnosed PBC.Discussion:In conclusion that familial PBC is not rare, that it is related to maternally inherited factors. PBC may be initially asymptomatic and therefore family
screening is important in the early diagnosis and treatment.