Diagnostic Approach to Acute Liver Failure in Children: A Position Paper by the SIGENP Liver Disease Working Group

Giorgio, Angelo Di; Bartolini, Elisa; Calvo, Pier Luigi; Cananzi, Mara; Cirillo, Francesco; Corte, Claudia Della; Dionisi‐Vici, Carlo; Indolfi, Giuseppe; Iorio, Raffaele; Maggiore, Giuseppe; Mandato, Claudia; Nebbia, Gabriella; Nicastro, Emanuele; Pinon, Michele; Ranucci, Giusy; Sciveres, Marco; Vajro, Pietro; D’Antiga, Lorenzo

doi:10.1016/j.dld.2021.03.004

Cited by 22 publications

(42 citation statements)

References 104 publications

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“…Di Giorgio et al’s position paper on the evaluation of pediatric ALF suggested several factors to establish the diagnosis of autoimmune ALF. These included a combination of biochemical features such as positive autoantibodies, histological features such as interface hepatitis, and the presence of autoimmunity in the patient or family 12 . In our patient, the autoimmune nature of the ALF was strongly suggested by the presence of positive anti‐SMA, elevated IgG, and the finding of the AIRE mutation on genetic testing.…”

Section: Discussionmentioning

confidence: 63%

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Rare genetic mutation triggering acute liver failure in a toddler requiring a liver transplant

Chen

Ambani

Zeft

et al. 2021

Pediatric Transplantation

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APS‐1 is an extremely rare, autosomal recessive condition that often presents with candidiasis, adrenal insufficiency, and hypoparathyroidism. This condition is associated with autoimmune hepatitis in less than 20% of cases, and there have only been a few reports of children with the condition who developed ALF. We present a unique case of an infant with APS‐1 who developed ALF and subsequently required liver transplantation.

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Section: Discussionmentioning

confidence: 63%

“…Autoimmune hepatitis only represents 6–22% of total cases of pediatric ALF and the diagnosis may be difficult to establish 11‐13 . Di Giorgio et al’s position paper on the evaluation of pediatric ALF suggested several factors to establish the diagnosis of autoimmune ALF.…”

Section: Discussionmentioning

confidence: 99%

Rare genetic mutation triggering acute liver failure in a toddler requiring a liver transplant

Chen

Ambani

Zeft

et al. 2021

Pediatric Transplantation

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“…1 Diagnostic evaluation should be tailored according to clinical information, age of presentation, and geographical location. 4,7…”

Section: Clinical Evaluationmentioning

confidence: 99%

“…8,9 DNA sequencing technology (e.g., clinical exome sequencing and next generation sequencing) is increasingly effective in detecting inherited metabolic disorders and monogenic diseases. 4 In their cohort of 45 children with indeterminate PALF, Hegarty et al 9 reported that next generation sequencing helped identifying specific etiologies in 20% of the cases. The most common findings were variants involving neuroblastoma amplified sequence ( NBAS ) and mitochondrial DNA maintenance genes.…”

Section: Clinical Evaluationmentioning

confidence: 99%

“…Biopsy of the oral mucosa is also helpful as it would show iron staining in the minor salivary glands. 4 Histologically, the liver in GALD is characterized by panlobular hepatocellular damage with reticulin collapse and variable degree of pericellular fibrosis. Hepatocytes may show siderosis, pseudoacinar, and occasional giant cell transformation with canalicular cholestasis (Figure 2).…”

Section: Specific Etiologies Of Pediatric Acute Liver Failurementioning

confidence: 99%

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Pediatric Acute Liver Failure: A Clinicopathological Perspective

Putra

Perez‐Atayde

2022

Pediatr Dev Pathol

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Pediatric acute liver failure (PALF) is a life-threatening disorder characterized by acute hepatocellular injury occurring in children without recognized underlying liver disease. The clinicopathologic evaluation of PALF requires a different approach from that in adults. The diagnostic considerations differ depending on the age, personal and family history, geographical region, and clinical presentation. Distinct entities such as gestational alloimmune liver disease, herpes simplex virus infection, and metabolic disorders should be considered in neonates with acute liver failure, while acetaminophen toxicity and autoimmune hepatitis are more frequently seen in older children and adolescents. An identified cause for PALF despite a negative complete evaluation (indeterminate) is lacking in 30 to 50% of cases. Although not routinely performed in the setting of PALF, liver biopsy may be helpful in assessing the etiology, potential mechanisms of injury, determining the appropriateness of liver transplantation, and prognostication of the patients. In this article, we review the clinicopathologic characteristics of PALF with an emphasis on general approach of pathologic evaluation and histopathologic characteristic of selected entities.

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Clinical characteristics and outcomes of acute liver failure in neonates: a retrospective cohort in China

Xu,

Zhang,

et al. 2024

Eur J Pediatr

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Neonatal acute liver failure (NALF), as a rare disease with high mortality, has limited relevant literature reports in China. We attempted to analyze a NALF cohort to improve the prognosis of this disease. We included all patients diagnosed with NALF at our institution between 2016 and 2021 and retrospectively reviewed their electronic records. NALF was defined as an INR ≥ 2.0 due to liver disease 28 days after birth. Comparisons were made according to etiology and outcome. The Kaplan-Meier method was used to estimate survival. Fifty-eight patients were included in this study. Etiologies included hypoxic/ischemic injury (29.3%), infection (27.6%), gestational alloimmune liver disease with neonatal hemochromatosis (GALD-NH) (10.3%), inherited metabolic diseases (5.2%), hemophagocytic lymphohistiocytosis (1.7%), other etiologies (12.1%), and unidentified causes (13.8%). Enteroviruses constituted 87.5% of the viral infections, whereas herpes simplex virus accounted for no infections. The median INR was significantly lower in the infection group than in the GALD-NH group (P < 0.05 for multiple comparisons). At the last follow-up, none of the patients had undergone liver transplantation, and the overall mortality rate was 50%. Liver function completely recovered in 31% of the patients, all of whom survived. The overall median survival time was 48 days; 26 days for hypoxic/ischemic injury and 43 days for GALD-NH. The incidence of cholestasis was significantly greater among surviving patients (P = 0.018). Conclusion: Hypoxic/ischemic injury and infection are the predominant etiologies of NALF in China. The overall prognosis of NALF is poor, but its short-term prognosis is determined by the etiology. What is Known:• Neonatal acute liver failure (NALF) is a rare disorder with limited cohort studies, especially in China.• Gestational alloimmune liver disease, viral infections (especially herpes simplex virus), metabolic diseases and ischemic insults are common etiologies of NALF, which are significantly different from other populations.• There are no reliable biochemical markers to predict the outcome of NALF. What is New:• In this first report on a Chinese NALF cohort, we demonstrate that hypoxic/ischemic injury and infection (excluding herpes simplex virus) are the predominant etiologies of NALF.• The overall prognosis of NALF is poor, and its etiology determines the short-term outcome.

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Diagnostic Approach to Acute Liver Failure in Children: A Position Paper by the SIGENP Liver Disease Working Group

Cited by 22 publications

References 104 publications

Rare genetic mutation triggering acute liver failure in a toddler requiring a liver transplant

Rare genetic mutation triggering acute liver failure in a toddler requiring a liver transplant

Pediatric Acute Liver Failure: A Clinicopathological Perspective

Clinical characteristics and outcomes of acute liver failure in neonates: a retrospective cohort in China

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