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Advisor(s)
Abstract(s)
Introdução: A Colestase Intra-hepática Familiar Progressiva (PFIC) é um grupo
heterogéneo de doenças hereditárias autossómicas recessivas que têm início no período
neonatal. Tem uma incidência estimada de 1:50 000 a 1:100 000 nascimentos. Destacamse três formas clínicas principais, PFIC1, PFIC2, PFIC3. A Colestase Intra-hepática da
Gravidez (ICP) é a doença hepática mais comum na gravidez e caracteriza-se por colestase
e prurido transitórios.
Objetivos: Esta dissertação tem como objetivo a realização de uma revisão bibliográfica
sobre as 3 formas clínicas principais de PFIC, e estabelecer a sua relação com a Colestase
Intra-hepática da Gravidez. Contribuindo assim para o diagnóstico precoce destas duas
entidades.
Metodologia: Pesquisa na base de dados da PubMed de artigos sobre as três formas
clínicas principais de PFIC nos últimos 5 anos, e de artigos sobre a ICP nos últimos 2 anos.
Resultados: Existem três principais formas clínicas, PFIC1, PFIC2, PFIC3, causadas por
três genes distintos: FIC1 (gene ATP8B1) para PFIC1; BSEP (gene ABCB11) para PFIC2; e
MDR3 (gene ABCB4) para PFIC3, sendo as PFIC 1 e 2, responsáveis por 2/3 dos casos. Em
mulheres grávidas, com mutações nos genes implicados nas PFIC’s, pode observar-se uma
forma transitória de colestase que se inicia no terceiro trimestre da gravidez,
desencadeada por fatores hormonais e ambientais, a ICP.
Conclusão: A Colestase Intra-hepática Familiar Progressiva resulta em morbimortalidade elevada, na ausência de transplante hepático. A Colestase Intra-hepática da
Gravidez, apesar de resolver espontaneamente após o parto, está associada a complicações
fetais severas. Deste modo, estas duas entidades devem ser tidas em consideração
aquando de uma apresentação colestática, a fim de atuar de forma precoce e eficaz. A
Colestase Intra-hepática da Gravidez envolve os mesmos genes que as três principais
formas clínicas de PFICs, mais frequentemente o gene ABCD4, e é um fenótipo que
representa um contínuo da mesma doença.
Introduction: Progressive Familial Intrahepatic Cholestasis (PFIC) is a heterogeneous group of inherited autosomal recessive diseases that begin in the neonatal period. It has an estimated incidence of 1:50,000 to 1:100,000 births. There are three main clinical forms, PFIC1, PFIC2, PFIC3. Intrahepatic Cholestasis of Pregnancy (ICP) is the most common liver disease in pregnancy and is characterized by transient cholestasis and pruritus. Objectives: This Master’s Degree Thesis intends to review the literature on the three main clinical forms of PFIC and to establish the relation of PFIC and Intrahepatic Cholestasis of Pregnancy. Thus contributing to the early diagnosis of these two entities. Methodology: Search on PubMed database of articles on the three main clinical forms of PFIC in the last 5 years, and of articles on ICP in the last 2 years. Results: There are three main clinical forms, PFIC1, PFIC, PFIC3, PFIC2 by three distinct genes: FIC1 (ATP8B1 gene) for PFIC1; BSEP (ABCB11 gene) for PFIC2; and MDR3 (ABCB4 gene) for PFIC3, being that PFIC 1 and 2 are responsible for 2/3 of the cases. In pregnant women, with mutations in the genes involved in PFIC's, a transient form of cholestasis can be observed, beginning in the third trimester of pregnancy, triggered by hormonal and environmental factors, named ICP. Conclusion: Progressive Familial Intrahepatic Cholestasis results in high morbidity and mortality in the absence of liver transplantation. Intrahepatic Cholestasis of Pregnancy, despite resolving spontaneously after delivery, is associated with severe fetal complications. Thus, these two entities must be taken into account when in the presence of a cholestatic presentation, in order to act early and effectively. Intrahepatic Cholestasis of Pregnancy involves the same genes as the three main clinical forms of PFICs, most often the ABCD4 gene, and is a phenotype that represents a continuum of the same disease.
Introduction: Progressive Familial Intrahepatic Cholestasis (PFIC) is a heterogeneous group of inherited autosomal recessive diseases that begin in the neonatal period. It has an estimated incidence of 1:50,000 to 1:100,000 births. There are three main clinical forms, PFIC1, PFIC2, PFIC3. Intrahepatic Cholestasis of Pregnancy (ICP) is the most common liver disease in pregnancy and is characterized by transient cholestasis and pruritus. Objectives: This Master’s Degree Thesis intends to review the literature on the three main clinical forms of PFIC and to establish the relation of PFIC and Intrahepatic Cholestasis of Pregnancy. Thus contributing to the early diagnosis of these two entities. Methodology: Search on PubMed database of articles on the three main clinical forms of PFIC in the last 5 years, and of articles on ICP in the last 2 years. Results: There are three main clinical forms, PFIC1, PFIC, PFIC3, PFIC2 by three distinct genes: FIC1 (ATP8B1 gene) for PFIC1; BSEP (ABCB11 gene) for PFIC2; and MDR3 (ABCB4 gene) for PFIC3, being that PFIC 1 and 2 are responsible for 2/3 of the cases. In pregnant women, with mutations in the genes involved in PFIC's, a transient form of cholestasis can be observed, beginning in the third trimester of pregnancy, triggered by hormonal and environmental factors, named ICP. Conclusion: Progressive Familial Intrahepatic Cholestasis results in high morbidity and mortality in the absence of liver transplantation. Intrahepatic Cholestasis of Pregnancy, despite resolving spontaneously after delivery, is associated with severe fetal complications. Thus, these two entities must be taken into account when in the presence of a cholestatic presentation, in order to act early and effectively. Intrahepatic Cholestasis of Pregnancy involves the same genes as the three main clinical forms of PFICs, most often the ABCD4 gene, and is a phenotype that represents a continuum of the same disease.
Description
Keywords
Intrahepatic Cholestasis of Pregnancy. Progressive Familial Intrahepatic Cholestasis