Fallo hepático aguda asociado a enfermedades metabólicas hereditarias en niños pequeños

Costa, Fátima; Moinho, Rita; Ferreira, Sandra; Garcia, Paula; Diogo, Luísa; Gonçalves, Isabel; Pinto, Carla

doi:10.1016/j.anpedi.2017.02.012

Cited by 11 publications

(5 citation statements)

References 20 publications

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“…If diagnosis is delayed, hepatic injury will progress with possible fatal evolution or fibrotic changes and cirrhosis [2]. The indication for liver transplantation in galactosemia is often difficult, not only because it is a reversible disorder, but also because dysfunction of other organs or systems (MSOF–multisystem organ failure) could be also be associated [18]. Accumulation of galactose and galactitol in lens cells leads to opacity of the lens (“oil droplet” cataract), which progresses to blindness [6].…”

Section: Discussionmentioning

confidence: 99%

Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure

et al. 2019

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Classic galactosemia is an autosomal recessive disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) involved in galactose metabolism. Bacterial infections are a known cause of early morbidity and mortality in children with classic galactosemia. The most common agent is Escherichia coli, but in rare situations, other bacteria are incriminated. We report a case of a three-week-old female patient with galactosemia, who presented with Group B Streptococcus (GBS) meningitis/sepsis. She received treatment with antibiotics, supportive therapy, and erythrocyte transfusion, but after a short period of improvement, she presented acute liver failure with suspicion of an inborn error of metabolism. Rapid nuclear magnetic resonance (NMR) spectroscopy from urine showed highly elevated values of galactose and galactitol. Under intensive treatment for acute liver failure and with a lactose-free diet, her clinical features and laboratory parameters improved considerably. Genetic testing confirmed compound heterozygous status for GALT mutations: c.563 A>G [p.Q188R] and c. 910 C>T, the last mutation being a novel mutation in GALT gene. In countries without an extensive newborn screening program, a high index of suspicion is necessary for early diagnosis and treatment of galactosemia.

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Section: Discussionmentioning

confidence: 99%

Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure

et al. 2019

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“…During the period of growth in children with weak blood brain barrier (BBB) function, the increased permeability of the BBB to serum bilirubin may result in bilirubin reducing cell surface tension, leading to toxic effects on brain capillary endothelial cell walls [30]. Higher blood ammonia and unconjugated bilirubin easily passing through the BBB into the brain could damage the balance of nervous system excitatory amino acid and inhibitory amino acid quantities [31], which could make the brain mitochondrial oxidative phosphorylation uncoupling effect the energy metabolism of brain cells, leading to central nervous system disorders and even severe central nervous system disease such as hepatic encephalopathy and nuclear jaundice [32,33]. Patients in the abnormal PDI group had lower serum albumin level before transplantation which was related to height and weight stunting.…”

Section: Discussionmentioning

confidence: 99%

The Effect of Pediatric Living Donor Liver Transplantation on Neurocognitive Outcomes in Children

Sun

Jia

et al. 2019

Ann Transplant

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Background Neurocognitive dysfunction commonly occurs after solid organ transplantation and affects 15–30% of liver transplant recipients. The aim of this study was to evaluate the neurocognitive changes pre- and post-operation and the relative factors affecting those changes. Material/Methods Children with biliary atresia who underwent pediatric living donor-related liver transplantation before the age of 2 years were given Bayley Scale of Infant Development-II test (BSID-II), including Mental Development Index (MDI) and Psychomotor Development Index (PDI) the week before and again half a year after transplantation to assess the effect of transplantation on neurocognition. According to the test outcome, the children were divided into a normal group and an abnormal group. The association of clinical data with neurocognitive development between the 2 groups was analyzed by logistic regression analysis. Results There was a certain degree of improvement in neurocognition half a year after surgery compared with preoperative. The BSID-II subscales were significantly lower than expected before and after transplantation. Preoperative blood ammonia and bilirubin levels were independent risk factors for MDI half a year after transplantation, and preoperative albumin and bilirubin levels were risk factors for PDI. Conclusions Liver transplantation clearly improves children’s neurocognitive function. The postoperative neurocognition is closely related to pre-operation nutritional development.

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“…Viral infections, gestational alloimmune liver disease (GALD), and metabolic diseases are the main causes leading to NLF [ 1 , 2 ]. Galactosemia, mitochondrial disorders in particular mitochondrial DNA maintenance defects (MDMDs), and tyrosinemia type 1 are the most prevalent causes of liver failure in infancy [ 2 , 3 ].…”

Section: Introductionmentioning

confidence: 99%

Fulminant Neonatal Liver Failure in MPV 17-Related Mitochondrial DNA Depletion Syndrome

Abduljalil,

Ben Turkia,

Fakhroo

et al. 2023

Case Reports in Hepatology

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Mitochondrial depletion syndromes are well established causes of liver failure in infants. Hepatocerebral variant related to MPV17 gene defect is characterized by infantile onset of progressive liver failure, developmental delay, neurological manifestations, lactic acidosis, hypoglycemia, and mtDNA depletion in liver tissue. We report a hepatocerebral variant of mitochondrial DNA depletion syndrome in a neonate who presented with septic shock picture, hypoglycemia, jaundice, hypotonia, and rotatory nystagmus. Family history was significant for consanguinity and a brother who died at the age of 4 months. Investigations showed mild liver function derangement contrasting with severe coagulopathy, hyperlactatemia, and generalized aminoaciduria. The brain MRI was normal. Next generation sequencing (NGS) panel identified a MPV17 gene missense homozygous pathogenic variant. The infant expired at the age of 2 weeks with refractory ascites. This case illustrates a challenging diagnosis causing liver failure and death in neonatal period. Genetic testing of mitochondrial DNA depletion syndromes should be a part of liver failure workup in addition to other treatable disorders presenting with encephalo-hepatopathy in infancy.

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Fallo hepático aguda asociado a enfermedades metabólicas hereditarias en niños pequeños

Abstract: 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.

Cited by 11 publications

References 20 publications

Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure

Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure

The Effect of Pediatric Living Donor Liver Transplantation on Neurocognitive Outcomes in Children

Fulminant Neonatal Liver Failure in MPV 17-Related Mitochondrial DNA Depletion Syndrome

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