Please use this identifier to cite or link to this item:
https://hdl.handle.net/10316/107488
DC Field | Value | Language |
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dc.contributor.author | Dias Costa, Filipa | - |
dc.contributor.author | Moinho, Rita | - |
dc.contributor.author | Ferreira, Sandra | - |
dc.contributor.author | Garcia, Paula | - |
dc.contributor.author | Diogo, Luisa | - |
dc.contributor.author | Gonçalves, Isabel | - |
dc.contributor.author | Pinto, Carla | - |
dc.date.accessioned | 2023-07-14T10:30:50Z | - |
dc.date.available | 2023-07-14T10:30:50Z | - |
dc.date.issued | 2018-02 | - |
dc.identifier.issn | 16954033 | pt |
dc.identifier.uri | https://hdl.handle.net/10316/107488 | - |
dc.description.abstract | Introducción: El fallo hepático agudo (FHA) secundario a enfermedades metabólicas hereditarias (EMH) es una enfermedad grave infrecuente de mal pronóstico. La intervención temprana puede salvar vidas. Objetivo: Describir la presentación clínica, la investigación y la evolución de FHA asociado a EMH en ni˜nos peque˜nos. Material y métodos: Estudio retrospectivo realizado en una unidad terciaria de cuidados intensivos neonatales y pediátricos, por un período de 27 a˜nos. Se analizaron los registros médicos de todos los ni˜nos hasta 2 a˜nos de edad, hospitalizados por FHA y con etiología metabólica documentada. Resultados: De los 34 casos de ALF, 18 se asociaban a EMH: galactosemia (4), síndrome de depleción del ADN mitocondrial (SDM) (3), deficiencia de ornitina transcarbamilasa (3), defectos congénitos de la glucosilación (2), tirosinemia tipo 1 (2), deficiencia de 3-hidroxi-acil-CoA deshidrogenasa de cadena larga (1), intolerancia hereditaria a la fructosa (1), aciduria metilmalónica clásica (1) y citrulinemia tipo 1 (1). La edad mediana fue de 1,3 meses. En el 67% de los casos se había observado al menos un síntoma o signo indicativo de EMH con anterioridad (vómitos, fallo de medro, hipotonía o retraso del desarrollo). Los signos físicos más frecuentes en el momento del ingreso fueron: hepatomegalia (72%), ictericia (67%) y encefalopatía (44%). Los niveles analíticos pico fueron: razón internacional normalizada media, 4,5; lactato mediano, 5 mmol/L; bilirrubina media, 201 mol/L; alanina aminotransferasa (ALT) mediana, 137 UI/L; y amonio mediano, 177 mol/L. Un paciente fue remitido para trasplante de hígado en contexto de FHA (MSD). La tasa de mortalidad fue del 44%. Discusión: La identificación de EMH como causa frecuente de FHA permitió el uso de medidasterapéuticas específicas y un asesoramiento familiar apropiado. Sus manifestaciones clínicasparticulares y niveles moderados de ALT y bilirrubina pueden llevar a sospechar esta condición. | pt |
dc.description.abstract | Introduction: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is arare life-threatening condition with a poor prognosis. Early intervention may be lifesaving.Objective: To describe clinical presentation, investigation and outcomes of ALF related to IMDin young children.Material and methods: Retrospective review of the medical records of children aged up to24 months, admitted to a tertiary pediatric and neonatal Intensive Care Unit during a 27-yearperiod, fulfilling the ALF criteria, with documented metabolic etiology.Results: From 34 ALF cases, 18 were related to IMD: galactosemia (4), mitochondrial DNAdepletion syndrome (MDS) (3), ornithine transcarbamilase deficiency (3), congenital defectsof glycosylation (2), tyrosinemia type 1 (2), long-chain 3-hydroxyacyl-CoA dehydrogenasedeficiency (1), hereditary fructose intolerance (1), classic methylmalonic aciduria (1) andcitrulinemia type 1 (1). The median age was 1.3 months. At least one previous suggestivesign/symptom of IMD (vomiting, failure to thrive, hypotonia or developmental delay) wasobserved in 67% of the cases. The most common physical signs at admission included: hepato-megaly (72%), jaundice (67%) and encephalopathy (44%). The peak laboratorial findings were:mean international normalizad ratio 4.5, median lactate 5 mmol/L, mean bilirubin 201 mol/L,median alanine aminotransferase (ALT) 137 UI/L and median ammonia 177 mol/L. One patientwas submitted to liver transplant in ALF context (MSD). The mortality rate was 44%.Discussion: The identification of IMD as a frequent cause of ALF allowed specific therapeuticmeasures and adequate family counselling. Particular clinical features and moderated ALT andbilirubin levels can lead to its suspicion. | pt |
dc.language.iso | spa | pt |
dc.publisher | Elsevier | pt |
dc.rights | openAccess | pt |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | pt |
dc.subject | Pediátrico | pt |
dc.subject | Fallo hepático agudo | pt |
dc.subject | Enfermedades metabólicas hereditarias | pt |
dc.subject | Pediatric | pt |
dc.subject | Acute liver failure | pt |
dc.subject | Inherited metabolicdiseases | pt |
dc.subject.mesh | Amino Acid Metabolism, Inborn Errors | pt |
dc.subject.mesh | Female | pt |
dc.subject.mesh | Humans | pt |
dc.subject.mesh | Infant | pt |
dc.subject.mesh | Infant, Newborn | pt |
dc.subject.mesh | Liver Failure, Acute | pt |
dc.subject.mesh | Male | pt |
dc.subject.mesh | Retrospective Studies | pt |
dc.title | Fallo hepático aguda asociado a enfermedades metabólicas hereditarias en ni˜nos peque˜nos | pt |
dc.title.alternative | Acute liver failure related to inherited metabolic diseases in young children | pt |
dc.type | article | - |
degois.publication.firstPage | 69 | pt |
degois.publication.lastPage | 74 | pt |
degois.publication.issue | 2 | pt |
degois.publication.title | Anales de Pediatria | pt |
dc.peerreviewed | yes | pt |
dc.identifier.doi | 10.1016/j.anpedi.2017.02.012 | pt |
degois.publication.volume | 88 | pt |
dc.date.embargo | 2018-02-01 | * |
uc.date.periodoEmbargo | 0 | pt |
item.grantfulltext | open | - |
item.cerifentitytype | Publications | - |
item.languageiso639-1 | es | - |
item.openairetype | article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.fulltext | Com Texto completo | - |
crisitem.author.researchunit | CIBB - Center for Innovative Biomedicine and Biotechnology | - |
Appears in Collections: | FMUC Medicina - Artigos em Revistas Internacionais |
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Acute liver failure related to inherited metabolic diseases in young children.pdf | 461.79 kB | Adobe PDF | View/Open |
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