Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.16/2384 |
Resumo: | Background: The prevalence of non-alcoholic fatty liver disease (NAFLD) affecting children and adolescents has increased dramatically in recent years. This increase is most probably related to the obesity pandemic and the high consumption of fructose. However, hepatic steatosis has some rare causes (e.g., some metabolic diseases) of which clinicians should be aware, particularly (but not only) when patients are non-obese or non-overweight. Differential diagnosis is notably important when pathologies have a specific treatment, such as for glycogenosis type IX (GSD-IX). Aims: To contribute to the knowledge on the differential diagnosis of NAFLD in paediatric age and to the clinical, biochemical, molecular, and histological characterisations of GSD-IX, a rare metabolic disorder. Methods: We performed a retrospective study of a small series of cases (n = 3) of GSD-IX diagnosed in the past 6 years, who were currently being followed up in the Units of Gastroenterology or Metabolic Diseases of the Paediatric Division of our hospital and whose clinical presentation was NAFLD in paediatric age. Results: Three male patients were diagnosed with NAFLD before 2 years of age, 2 with confirmed diagnosis before the age of 3 years (alanine aminotransferase [ALT], liver ultrasound, and molecular analysis) and 1 whose diagnosis was confirmed at 11 years (ALT, liver ultrasound, liver histology, and molecular analysis). None of the patients were obese or overweight, and the daily fructose consumption was unknown. The outcome was favourable in all 3 patients, with follow-up periods ranging from 2 to 6 years. Conclusion: The decision on how far the search for secondary causes of NAFLD should go can be difficult, and GSD-IX must be on the list of possible causes. |
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Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in ChildrenFígado gordo causado por glicogenose tipo IX: Uma pequena série de casos em criançasChildrenGlycogen storage disease type IXNon-alcoholic fatty liver diseaseSteatohepatitisGlucogenose tipo IXFígado gordo não-alcoólicoEsteatohepatiteCriançasBackground: The prevalence of non-alcoholic fatty liver disease (NAFLD) affecting children and adolescents has increased dramatically in recent years. This increase is most probably related to the obesity pandemic and the high consumption of fructose. However, hepatic steatosis has some rare causes (e.g., some metabolic diseases) of which clinicians should be aware, particularly (but not only) when patients are non-obese or non-overweight. Differential diagnosis is notably important when pathologies have a specific treatment, such as for glycogenosis type IX (GSD-IX). Aims: To contribute to the knowledge on the differential diagnosis of NAFLD in paediatric age and to the clinical, biochemical, molecular, and histological characterisations of GSD-IX, a rare metabolic disorder. Methods: We performed a retrospective study of a small series of cases (n = 3) of GSD-IX diagnosed in the past 6 years, who were currently being followed up in the Units of Gastroenterology or Metabolic Diseases of the Paediatric Division of our hospital and whose clinical presentation was NAFLD in paediatric age. Results: Three male patients were diagnosed with NAFLD before 2 years of age, 2 with confirmed diagnosis before the age of 3 years (alanine aminotransferase [ALT], liver ultrasound, and molecular analysis) and 1 whose diagnosis was confirmed at 11 years (ALT, liver ultrasound, liver histology, and molecular analysis). None of the patients were obese or overweight, and the daily fructose consumption was unknown. The outcome was favourable in all 3 patients, with follow-up periods ranging from 2 to 6 years. Conclusion: The decision on how far the search for secondary causes of NAFLD should go can be difficult, and GSD-IX must be on the list of possible causes.Introdução: A prevalência de fígado gordo não-alcoólico (NAFLD) afetando crianças e adolescentes, aumentou enormemente nos últimos anos. Este aumento está muito provavelmente relacionado com a pandemia de obesidade e o elevado consumo de fructose. No entanto, a esteatose hepática pode ser causada por algumas entidades raras (por exemplo, doenças metabólicas) para as quais os clínicos devem estar alertados, particularmente (mas não só) quando os doentes não são obesos nem têm excesso de peso. O diagnóstico diferencial é especialmente importante quando as patologias têm um tratamento específico, como é o caso da Glicogenose tipo IX (GSD-IX). Objetivos: Contribuir para o conhecimento dos diagnósticos diferenciais de NAFLD em idade pediátrica, e contribuir para a caracterização clínica, bioquímica, molecular e histológica da GSD-IX, uma doença metabólica rara. Metodologia:Estudo retrospectivo de uma pequena série de casos (n = 3) de GSD-IX diagnosticados nos últimos 6 anos, atualmente em seguimento nas Unidades de Gastrenterologia ou de Doenças Metabólicas do Serviço de Pediatria do nosso hospital, e cuja forma de apresentação clínica foi NALFLD em idade pediátrica. Resultados: Três doentes de sexo masculino foram diagnosticados com NAFLD antes dos 2 anos de idade, dois com diagnóstico confirmado antes dos 3 anos (alanina aminotransferase [ALT], ecografia hepática, e estudo molecular), e um cujo diagnóstico foi confirmado aos 11 anos (ALT, ecografia e histologia hepáticas, e estudo molecular). Nenhum dos doentes era obeso ou tinha excesso de peso, e o consumo diário de frutose era desconhecido. A evolução foi favorável nos três doentes, com um tempo de seguimento que variouentre 2 e 6 anos. Conclusões: A decisão sobre até onde a pesquisa de causas secundárias de NAFLD deve ir pode ser difícil, e a GSD-IX deve estar na lista de causas possíveis.Karger Publishers Open AccessRepositório Científico do Centro Hospitalar Universitário de Santo AntónioLeuzinger Dias, C.Maio, I.Brandão, J.Tomás, E.Martins, EsmeraldaSantos Silva, E.2020-05-13T11:53:36Z2019-102019-10-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/2384engLeuzinger Dias C, Maio I, BranLeuzinger Dias C, Maio I, Brandão JR, Tomás E, Martins E, Santos Silva E. Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children. GE Port J Gastroenterol. 2019;26(6):430‐437. doi:10.1159/000496571dão JR, Tomás E, Martins E, Santos Silva E. Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children. GE Port J Gastroenterol. 2019;26(6):430‐437. doi:10.1159/0004965712341-454510.1159/000496571info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-10-20T11:00:31Zoai:repositorio.chporto.pt:10400.16/2384Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:38:35.260051Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children Fígado gordo causado por glicogenose tipo IX: Uma pequena série de casos em crianças |
title |
Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children |
spellingShingle |
Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children Leuzinger Dias, C. Children Glycogen storage disease type IX Non-alcoholic fatty liver disease Steatohepatitis Glucogenose tipo IX Fígado gordo não-alcoólico Esteatohepatite Crianças |
title_short |
Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children |
title_full |
Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children |
title_fullStr |
Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children |
title_full_unstemmed |
Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children |
title_sort |
Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children |
author |
Leuzinger Dias, C. |
author_facet |
Leuzinger Dias, C. Maio, I. Brandão, J. Tomás, E. Martins, Esmeralda Santos Silva, E. |
author_role |
author |
author2 |
Maio, I. Brandão, J. Tomás, E. Martins, Esmeralda Santos Silva, E. |
author2_role |
author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Centro Hospitalar Universitário de Santo António |
dc.contributor.author.fl_str_mv |
Leuzinger Dias, C. Maio, I. Brandão, J. Tomás, E. Martins, Esmeralda Santos Silva, E. |
dc.subject.por.fl_str_mv |
Children Glycogen storage disease type IX Non-alcoholic fatty liver disease Steatohepatitis Glucogenose tipo IX Fígado gordo não-alcoólico Esteatohepatite Crianças |
topic |
Children Glycogen storage disease type IX Non-alcoholic fatty liver disease Steatohepatitis Glucogenose tipo IX Fígado gordo não-alcoólico Esteatohepatite Crianças |
description |
Background: The prevalence of non-alcoholic fatty liver disease (NAFLD) affecting children and adolescents has increased dramatically in recent years. This increase is most probably related to the obesity pandemic and the high consumption of fructose. However, hepatic steatosis has some rare causes (e.g., some metabolic diseases) of which clinicians should be aware, particularly (but not only) when patients are non-obese or non-overweight. Differential diagnosis is notably important when pathologies have a specific treatment, such as for glycogenosis type IX (GSD-IX). Aims: To contribute to the knowledge on the differential diagnosis of NAFLD in paediatric age and to the clinical, biochemical, molecular, and histological characterisations of GSD-IX, a rare metabolic disorder. Methods: We performed a retrospective study of a small series of cases (n = 3) of GSD-IX diagnosed in the past 6 years, who were currently being followed up in the Units of Gastroenterology or Metabolic Diseases of the Paediatric Division of our hospital and whose clinical presentation was NAFLD in paediatric age. Results: Three male patients were diagnosed with NAFLD before 2 years of age, 2 with confirmed diagnosis before the age of 3 years (alanine aminotransferase [ALT], liver ultrasound, and molecular analysis) and 1 whose diagnosis was confirmed at 11 years (ALT, liver ultrasound, liver histology, and molecular analysis). None of the patients were obese or overweight, and the daily fructose consumption was unknown. The outcome was favourable in all 3 patients, with follow-up periods ranging from 2 to 6 years. Conclusion: The decision on how far the search for secondary causes of NAFLD should go can be difficult, and GSD-IX must be on the list of possible causes. |
publishDate |
2019 |
dc.date.none.fl_str_mv |
2019-10 2019-10-01T00:00:00Z 2020-05-13T11:53:36Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.16/2384 |
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http://hdl.handle.net/10400.16/2384 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Leuzinger Dias C, Maio I, BranLeuzinger Dias C, Maio I, Brandão JR, Tomás E, Martins E, Santos Silva E. Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children. GE Port J Gastroenterol. 2019;26(6):430‐437. doi:10.1159/000496571dão JR, Tomás E, Martins E, Santos Silva E. Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children. GE Port J Gastroenterol. 2019;26(6):430‐437. doi:10.1159/000496571 2341-4545 10.1159/000496571 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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Karger Publishers Open Access |
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Karger Publishers Open Access |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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