A Rare Case of 18-year-old female with Primary Sclerosing Cholangitis, Mixed Connective Tissue Disease, Short Stature

Background: Primary sclerosing cholangitis (PSC) is a rare chronic immune-mediated liver disease affecting intra and extrahepatic bile ducts, in which inflammation and fibrosis are the main factors that lead to biliary stricture. The pathogenesis of this disease is still unclear. It happens approxim...

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Autores principales:	Fransisca Yustika Dewi Siahaan, Hery Djagat Purnomo, Khristophorus Heri Nugroho Hario Seno, Rakhma Yanti Hellmi
Formato:	article
Lenguaje:	EN
Publicado:	Diponegoro University 2020
Materias:	primary sclerosing cholangitis mctd short stature Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/37bcd8eeffb746878d83419817b4d5d6
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spelling	oai:doaj.org-article:37bcd8eeffb746878d83419817b4d5d62021-11-05T16:47:42ZA Rare Case of 18-year-old female with Primary Sclerosing Cholangitis, Mixed Connective Tissue Disease, Short Stature2503-217810.14710/jbtr.v6i2.6299https://doaj.org/article/37bcd8eeffb746878d83419817b4d5d62020-08-01T00:00:00Zhttps://ejournal2.undip.ac.id/index.php/jbtr/article/view/6299https://doaj.org/toc/2503-2178Background: Primary sclerosing cholangitis (PSC) is a rare chronic immune-mediated liver disease affecting intra and extrahepatic bile ducts, in which inflammation and fibrosis are the main factors that lead to biliary stricture. The pathogenesis of this disease is still unclear. It happens approximately 0.5 to 1.3 cases per 100,000 person-years in Northern Europe. PSC is difficult to diagnose until complications arise. PSC can also be a manifestation of mixed connective tissue disease (MCTD) in the liver. A chronic immune disease that has occurred since childhood may result in delayed development and short stature. Case Presentation: A 18-year-old female presented with icteric, anemia, short stature, and absence of menstruation. Laboratory and radiological findings suggested obstruction of intra and extrahepatic biliary duct (conjugated bilirubin 11,80 mg/dL), severe anemia, normal sex hormone levels, increased RNP/SM antibodies. Histopathology showed liver cirrhosis suggestive for primary sclerosing cholangitis. The patient then was given biliary stenting, transfusion of packed red cell, immunosuppresive, corticosteroid, ursodeoxycholic acid. Within a year of treatment, there was a significant decrease of direct bilirubin and improvement in symptoms. Conclusion: Patient with PSC, MCTD, and short stature is a very rare case. This is the first case that has been found in dr. Kariadi Hospital, Semarang. It has high mortality rate and difficult to diagnose and treat. According to multiple guidelines, this patient should have liver transplantation , but in this case, biliary stenting and oral treatments have resulted in an excellent outcome.Fransisca Yustika Dewi SiahaanHery Djagat PurnomoKhristophorus Heri Nugroho Hario SenoRakhma Yanti HellmiDiponegoro Universityarticleprimary sclerosing cholangitismctdshort statureMedicine (General)R5-920ENJournal of Biomedicine and Translational Research, Vol 6, Iss 2, Pp 59-62 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	primary sclerosing cholangitis mctd short stature Medicine (General) R5-920
spellingShingle	primary sclerosing cholangitis mctd short stature Medicine (General) R5-920 Fransisca Yustika Dewi Siahaan Hery Djagat Purnomo Khristophorus Heri Nugroho Hario Seno Rakhma Yanti Hellmi A Rare Case of 18-year-old female with Primary Sclerosing Cholangitis, Mixed Connective Tissue Disease, Short Stature
description	Background: Primary sclerosing cholangitis (PSC) is a rare chronic immune-mediated liver disease affecting intra and extrahepatic bile ducts, in which inflammation and fibrosis are the main factors that lead to biliary stricture. The pathogenesis of this disease is still unclear. It happens approximately 0.5 to 1.3 cases per 100,000 person-years in Northern Europe. PSC is difficult to diagnose until complications arise. PSC can also be a manifestation of mixed connective tissue disease (MCTD) in the liver. A chronic immune disease that has occurred since childhood may result in delayed development and short stature. Case Presentation: A 18-year-old female presented with icteric, anemia, short stature, and absence of menstruation. Laboratory and radiological findings suggested obstruction of intra and extrahepatic biliary duct (conjugated bilirubin 11,80 mg/dL), severe anemia, normal sex hormone levels, increased RNP/SM antibodies. Histopathology showed liver cirrhosis suggestive for primary sclerosing cholangitis. The patient then was given biliary stenting, transfusion of packed red cell, immunosuppresive, corticosteroid, ursodeoxycholic acid. Within a year of treatment, there was a significant decrease of direct bilirubin and improvement in symptoms. Conclusion: Patient with PSC, MCTD, and short stature is a very rare case. This is the first case that has been found in dr. Kariadi Hospital, Semarang. It has high mortality rate and difficult to diagnose and treat. According to multiple guidelines, this patient should have liver transplantation , but in this case, biliary stenting and oral treatments have resulted in an excellent outcome.
format	article
author	Fransisca Yustika Dewi Siahaan Hery Djagat Purnomo Khristophorus Heri Nugroho Hario Seno Rakhma Yanti Hellmi
author_facet	Fransisca Yustika Dewi Siahaan Hery Djagat Purnomo Khristophorus Heri Nugroho Hario Seno Rakhma Yanti Hellmi
author_sort	Fransisca Yustika Dewi Siahaan
title	A Rare Case of 18-year-old female with Primary Sclerosing Cholangitis, Mixed Connective Tissue Disease, Short Stature
title_short	A Rare Case of 18-year-old female with Primary Sclerosing Cholangitis, Mixed Connective Tissue Disease, Short Stature
title_full	A Rare Case of 18-year-old female with Primary Sclerosing Cholangitis, Mixed Connective Tissue Disease, Short Stature
title_fullStr	A Rare Case of 18-year-old female with Primary Sclerosing Cholangitis, Mixed Connective Tissue Disease, Short Stature
title_full_unstemmed	A Rare Case of 18-year-old female with Primary Sclerosing Cholangitis, Mixed Connective Tissue Disease, Short Stature
title_sort	rare case of 18-year-old female with primary sclerosing cholangitis, mixed connective tissue disease, short stature
publisher	Diponegoro University
publishDate	2020
url	https://doaj.org/article/37bcd8eeffb746878d83419817b4d5d6
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A Rare Case of 18-year-old female with Primary Sclerosing Cholangitis, Mixed Connective Tissue Disease, Short Stature

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