Acute liver failure related to inherited metabolic diseases in young children

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

doi:10.1016/j.anpede.2017.03.003

Cited by 6 publications

(4 citation statements)

References 21 publications

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“…However, these disorders are being increasingly identified, and are responsible for significant morbidity and mortality in intensive care units. 1 2 3 4 5 6 7 IEM can present as acute metabolic emergencies that require a significant amount of pediatric intensive care unit (PICU) resources. Prompt and adequate intensive care supportive management and specific metabolic crisis treatment play an important role in improving outcomes.…”

Section: Introductionmentioning

confidence: 99%

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Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit

Lipari

Shchomak

Boto

et al. 2020

J Pediatr Intensive Care

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Few studies exist describing resources and care of pediatric patients with inborn errors of metabolism (IEM) admitted to pediatric intensive care unit (PICU). This study aims to characterize the PICU admissions of these patients to provide better diagnostic and therapeutic care in the future. Retrospective analysis of pediatric patients with IEM admitted to the PICU of a tertiary care center at a metabolic referral university hospital from 2009 to 2019 was included. Clinical information and demographic data were collected from PICU clinical records. During this period, 2% (n = 88 admissions, from 65 children) out of 4,459 PICU admissions had clinical features of IEM. The median age was 3 years (range: 3 days–21 years) and 33 were male. Median age at diagnosis was 3 months; 23/65 patients with intoxication disorders, 21/65 with disorders of energy metabolism, 17/65 with disorders of complex molecules, and 4/65 with other metabolic diseases (congenital lipodystrophy, Menkes' disease, hyperammonemia without a diagnosis). From a total of 88 admissions, 62 were due to metabolic decompensation (infection—38, neonatal period decompensation—14, external accident—5, prolonged fasting—2, and therapeutic noncompliance—3) and 26 elective admissions after a scheduled surgery/elective procedure. The most frequent clinical presentations were respiratory failure (30/88) and neurological deterioration (26/88). Mechanical ventilation was required in 30 patients and parenteral nutrition in 6 patients. Extracorporeal removal therapy was required in 16 pediatric patients (12 with maple syrup urine disease and 4 with hyperammonemia) with a median duration of 19 hours. The median length of PICU stay was 3.6 days (3 hours–35 days). Eight patients died during the studied period (cerebral edema—2, massive hemorrhage—5, and malignant arrhythmia—1). Acute decompensation was the main cause of admission in PICU in these patients. The complexity of these diseases requires specialized human and technical resources, with an important impact on the recovery and survival of these patients.

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Section: Introductionmentioning

confidence: 99%

“…2 4 An earlier recognition of IEM followed by early and prompt therapeutic intervention 3 5 has the potential to reduce the mortality rate in children, 2 prevent progressive neurologic damage, and reduce morbidity. 6 8 9 10 11 12…”

Section: Introductionmentioning

confidence: 99%

Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit

Lipari

Shchomak

Boto

et al. 2020

J Pediatr Intensive Care

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“…This center is the Portuguese reference in pediatric LT and PALF since 1994 and 2008, respectively, with a reduction in referral time and severity of cases upon admission since 2008 and a trend to mortality decline [ 20 ]. Thus, our results are in line with the noteworthy mortality associated with PALF (32.2%) and LT survival rate (76%), as described in the literature [ 1 , 2 , 4 ].…”

Section: Discussionmentioning

confidence: 99%

“…The majority of our patients had encephalopathy, which was more severe at admission in the NSR group. The presence of encephalopathy is widely associated with poor outcome [ 1 , 3 , 20 ] in particular in adult ALF. However, encephalopathy is challenging to incorporate into a prognostic model as it can be subtle and difficult to evaluate in younger children [ 17 ].…”

Section: Discussionmentioning

confidence: 99%

Prognostic Markers in Pediatric Acute Liver Failure

Nogueira¹,

Teixeira²,

Rodrigues-Fernandes³

et al. 2023

GE Port J Gastroenterol

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Introduction: Acute liver failure (ALF), although rare in children, is a complex progressive pathology, with multisystem involvement and high mortality. Isolated variables or those included in prognostic scores have been studied, to optimize organ allocation. However, its validation is challenging. This study aimed to assess the accuracy of several biomarkers and scores as predictors of prognosis in pediatric ALF (PALF). Methods: An observational study with retrospective data collection, including all cases of ALF, was defined according to the criteria of the Pediatric Acute Liver Failure Study Group, admitted to a pediatric intensive care unit (PICU) for 28 years. Two groups were defined: spontaneous recovery (SR) and non-SR (NSR) – submitted to liver transplantation (LT) or death at PICU discharge. Results: Fifty-nine patients were included, with a median age of 24 months, and 54% were female. The most frequent etiologies were metabolic (25.4%) and infectious (18.6%); 32.2% were undetermined. SR occurred in 21 patients (35.6%). In NSR group (N = 38, 64.4%), 25 required LT (42.4%) and 19 died (32.2%), 6 (15.7%) of whom after LT. The accuracy to predict NSR was acceptable for lactate at admission (AUC 0.72; 95% CI: 0.57–0.86; p = 0.006), ammonia peak (AUC 0.72; 95% CI: 0.58–0.86; p = 0.006), and INR peak (AUC 0.70; 95% CI: 0.56–0.85; p = 0.01). The cut-off value for lactate at admission was 1.95 mmol/L (sensitivity 78.4% and specificity 61.9%), ammonia peak was 64 μmol/L (sensitivity 100% and specificity 38.1%), and INR peak was 4.8 (sensitivity 61.1% and specificity 76.2%). Lactate on admission was shown to be an independent predictor of NSR on logistic regression model. Two prognostic scores had acceptable discrimination for NSR, LIU (AUC 0.73; 95% CI: 0.59–0.87; p = 0.004) and PRISM (AUC 0.71; 95% CI: 0.56–0.86; p = 0.03). In our study, the PALF delta score (PALF-ds) had lower discrimination capacity (AUC 0.63; 95% CI: 0.47–0.78; p = 0.11). Conclusions: The lactate at admission, an easily obtained parameter, had a similar capacity than the more complex scores, LIU and PRISM, to predict NSR. The prognostic value in our population of the promising dynamic score, PALF-ds, was lower than expected.

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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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Acute liver failure related to inherited metabolic diseases in young children

Cited by 6 publications

References 21 publications

Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit

Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit

Prognostic Markers in Pediatric Acute Liver Failure

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

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