Publication
Acute liver failure related to inherited metabolic diseases in young children
| dc.contributor.author | Dias-Costa, F | |
| dc.contributor.author | Moinho, R | |
| dc.contributor.author | Ferreira, S | |
| dc.contributor.author | Garcia, P | |
| dc.contributor.author | Diogo, L | |
| dc.contributor.author | Gonçalves, I | |
| dc.contributor.author | Pinto, C | |
| dc.date.accessioned | 2017-07-17T13:39:14Z | |
| dc.date.available | 2017-07-17T13:39:14Z | |
| dc.date.issued | 2017-04-11 | |
| dc.description.abstract | INTRODUCTION: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving. OBJECTIVE: To describe clinical presentation, investigation and outcomes of ALF related to IMD in young children. MATERIAL AND METHODS: Retrospective review of the medical records of children aged up to 24 months, admitted to a tertiary pediatric and neonatal Intensive Care Unit during a 27-year period, fulfilling the ALF criteria, with documented metabolic etiology. RESULTS: From 34 ALF cases, 18 were related to IMD: galactosemia (4), mitochondrial DNA depletion syndrome (MDS) (3), ornithine transcarbamilase deficiency (3), congenital defects of glycosylation (2), tyrosinemia type 1 (2), long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (1), hereditary fructose intolerance (1), classic methylmalonic aciduria (1) and citrulinemia type 1 (1). The median age was 1.3 months. At least one previous suggestive sign/symptom of IMD (vomiting, failure to thrive, hypotonia or developmental delay) was observed in 67% of the cases. The most common physical signs at admission included: hepatomegaly (72%), jaundice (67%) and encephalopathy (44%). The peak laboratorial findings were: mean international normalizad ratio 4.5, median lactate 5mmol/L, mean bilirubin 201μmol/L, median alanine aminotransferase (ALT) 137 UI/L and median ammonia 177μmol/L. One patient was 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 therapeutic measures and adequate family counselling. Particular clinical features and moderated ALT and bilirubin levels can lead to its suspicion. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | An Pediatr (Barc). 2017 Apr 11. pii: S1695-4033(17)30078-4. | pt_PT |
| dc.identifier.doi | 10.1016/j.anpedi.2017.02.012 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.4/2048 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.subject | Criança | pt_PT |
| dc.subject | Falência Hepática Aguda | pt_PT |
| dc.subject | Erros Inatos do Metabolismo | pt_PT |
| dc.title | Acute liver failure related to inherited metabolic diseases in young children | pt_PT |
| dc.title.alternative | Insuficiencia hepática aguda asociada a enfermedades metabólicas hereditarias en ninos pequenos | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |