The Role of Genetic and Immune Factors for the Pathogenesis of Primary Sclerosing Cholangitis in Childhood
Primary sclerosing cholangitis (PSC) is a rare cholestatic liver disease characterized by chronic inflammation of the biliary tree resulting in liver fibrosis. PSC is more common in male less than 40 years of age. The diagnosis of PSC is based on clinical, laboratory, image, and histological finding...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Gastroenterology Research and Practice |
| Online Access: | http://dx.doi.org/10.1155/2016/3905240 |
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| author | Priscila Menezes Ferri Ana Cristina Simões e Silva Soraya Luiza Campos Silva Diego Junior Queiroga de Aquino Eleonora Druve Tavares Fagundes Débora Marques de Miranda Alexandre Rodrigues Ferreira |
| author_facet | Priscila Menezes Ferri Ana Cristina Simões e Silva Soraya Luiza Campos Silva Diego Junior Queiroga de Aquino Eleonora Druve Tavares Fagundes Débora Marques de Miranda Alexandre Rodrigues Ferreira |
| author_sort | Priscila Menezes Ferri |
| collection | DOAJ |
| description | Primary sclerosing cholangitis (PSC) is a rare cholestatic liver disease characterized by chronic inflammation of the biliary tree resulting in liver fibrosis. PSC is more common in male less than 40 years of age. The diagnosis of PSC is based on clinical, laboratory, image, and histological findings. A biochemical profile of mild to severe chronic cholestasis can be observed. Endoscopic retrograde cholangiography is the golden standard method for diagnosis, but magnetic resonance cholangiography is currently also considered a first-line method of investigation. Differences in clinical and laboratory findings were observed in young patients, including higher incidence of overlap syndromes, mostly with autoimmune hepatitis, higher serum levels of aminotransferases and gamma-glutamyl transferase, and lower incidence of serious complications as cholangiocarcinoma. In spite of the detection of several HLA variants as associated factors in large multicenter cohorts of adult patients, the exact role and pathways of these susceptibility genes remain to be determined in pediatric population. In addition, the literature supports a role for an altered immune response to pathogens in the pathogenesis of PSC. This phenomenon contributes to abnormal immune system activation and perpetuation of the inflammatory process. In this article, we review the role of immune and genetic factors in the pathogenesis of PSC in pediatric patients. |
| format | Article |
| id | doaj-art-a567421b2b9c4bd99b39adce33f25347 |
| institution | Kabale University |
| issn | 1687-6121 1687-630X |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Gastroenterology Research and Practice |
| spelling | doaj-art-a567421b2b9c4bd99b39adce33f253472025-02-03T01:30:56ZengWileyGastroenterology Research and Practice1687-61211687-630X2016-01-01201610.1155/2016/39052403905240The Role of Genetic and Immune Factors for the Pathogenesis of Primary Sclerosing Cholangitis in ChildhoodPriscila Menezes Ferri0Ana Cristina Simões e Silva1Soraya Luiza Campos Silva2Diego Junior Queiroga de Aquino3Eleonora Druve Tavares Fagundes4Débora Marques de Miranda5Alexandre Rodrigues Ferreira6Department of Pediatrics, UFMG, 30130-100 Belo Horizonte, MG, BrazilDepartment of Pediatrics, UFMG, 30130-100 Belo Horizonte, MG, BrazilDepartment of Pediatrics, UFMG, 30130-100 Belo Horizonte, MG, BrazilDepartment of Pediatrics, UFMG, 30130-100 Belo Horizonte, MG, BrazilDepartment of Pediatrics, UFMG, 30130-100 Belo Horizonte, MG, BrazilDepartment of Pediatrics, UFMG, 30130-100 Belo Horizonte, MG, BrazilDepartment of Pediatrics, UFMG, 30130-100 Belo Horizonte, MG, BrazilPrimary sclerosing cholangitis (PSC) is a rare cholestatic liver disease characterized by chronic inflammation of the biliary tree resulting in liver fibrosis. PSC is more common in male less than 40 years of age. The diagnosis of PSC is based on clinical, laboratory, image, and histological findings. A biochemical profile of mild to severe chronic cholestasis can be observed. Endoscopic retrograde cholangiography is the golden standard method for diagnosis, but magnetic resonance cholangiography is currently also considered a first-line method of investigation. Differences in clinical and laboratory findings were observed in young patients, including higher incidence of overlap syndromes, mostly with autoimmune hepatitis, higher serum levels of aminotransferases and gamma-glutamyl transferase, and lower incidence of serious complications as cholangiocarcinoma. In spite of the detection of several HLA variants as associated factors in large multicenter cohorts of adult patients, the exact role and pathways of these susceptibility genes remain to be determined in pediatric population. In addition, the literature supports a role for an altered immune response to pathogens in the pathogenesis of PSC. This phenomenon contributes to abnormal immune system activation and perpetuation of the inflammatory process. In this article, we review the role of immune and genetic factors in the pathogenesis of PSC in pediatric patients.http://dx.doi.org/10.1155/2016/3905240 |
| spellingShingle | Priscila Menezes Ferri Ana Cristina Simões e Silva Soraya Luiza Campos Silva Diego Junior Queiroga de Aquino Eleonora Druve Tavares Fagundes Débora Marques de Miranda Alexandre Rodrigues Ferreira The Role of Genetic and Immune Factors for the Pathogenesis of Primary Sclerosing Cholangitis in Childhood Gastroenterology Research and Practice |
| title | The Role of Genetic and Immune Factors for the Pathogenesis of Primary Sclerosing Cholangitis in Childhood |
| title_full | The Role of Genetic and Immune Factors for the Pathogenesis of Primary Sclerosing Cholangitis in Childhood |
| title_fullStr | The Role of Genetic and Immune Factors for the Pathogenesis of Primary Sclerosing Cholangitis in Childhood |
| title_full_unstemmed | The Role of Genetic and Immune Factors for the Pathogenesis of Primary Sclerosing Cholangitis in Childhood |
| title_short | The Role of Genetic and Immune Factors for the Pathogenesis of Primary Sclerosing Cholangitis in Childhood |
| title_sort | role of genetic and immune factors for the pathogenesis of primary sclerosing cholangitis in childhood |
| url | http://dx.doi.org/10.1155/2016/3905240 |
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