Acute Liver Failure Secondary to Neuroblastoma Amplified Sequence Deficiency

Cárdenas, Vanessa; DiPaola, Frank; Adams, Stacie D.; Holtz, Alexander M.; Ahmad, Ayesha

doi:10.1016/j.jpeds.2017.03.040

Cited by 10 publications

(7 citation statements)

References 12 publications

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“…Progressive reduction in NK cells numbers has been described by Garcia Segarra et al (15) and then by Ricci et al (10). As Figure 2 demonstrates, the patients who had immunodeficiency and bone disease had mutations distributed along the gene, with no particular domain predominance (10,(14)(15)(16)(17)(18)(19)(20)(21)(22)(27)(28)(29)(30)(31)(32)(33)(34)(35), current study).…”

Section: Literature Reviewsupporting

confidence: 72%

“…mortality. Although some degree of liver disease has been associated with most NBAS variants, the mutations associated with severe liver phenotype were either loss-offunction or missense mutations predominantly located in the N-terminal and in the middle part of the NBAS gene (c.409C>T identified in 5 patients: c.680A>C;1749G>A, c.809G>C;2926del, c.1018G>C;2674G>T, c.2819A>C, and c.2819A>C) (15,18,(27)(28)(29)(30)(31).…”

Section: Literature Reviewmentioning

confidence: 99%

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Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature

Хорева

Pomerantseva

Belova³

et al. 2020

Front. Pediatr.

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Objectives: Mutations in the neuroblastoma-amplified sequence (NBAS) gene were originally described in patients with skeletal dysplasia or isolated liver disease of variable severity. Subsequent publications reported a more complex phenotype. Among multisystemic clinical symptoms, we were particularly interested in the immunological consequences of the NBAS deficiency. Methods: Clinical and laboratory data of 3 patients ages 13, 6, and 5 in whom bi-allelic NBAS mutations had been detected via next-generation sequencing were characterized. Literature review of 23 publications describing 74 patients was performed. Results: We report three Russian patients with compound heterozygous mutations of the NBAS gene who had combined immunodeficiency characterized by hypogammaglobulinemia, low T-cells, and near-absent B-cells, along with liver disease, skeletal dysplasia, optic-nerve atrophy, and dysmorphic features. Analysis of the data of 74 previously reported patients who carried various NBAS mutations demonstrated that although the most severe form of liver disease seems to require disruption of the N-terminal or middle part of NBAS, mutations of variable localizations in the gene have been associated with some form of liver disease, as well as immunological disorders. Conclusions: NBAS deficiency has a broad phenotype, and referral to an immunologist should be made in order to screen for immunodeficiency.

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Section: Literature Reviewsupporting

confidence: 72%

Section: Literature Reviewmentioning

confidence: 99%

Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature

Хорева

Pomerantseva

Belova³

et al. 2020

Front. Pediatr.

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“…Thus, an increased MGP activity would be compatible with the short stature and associated bone defects in the SOPH syndrome [ 25 ]. The phenotype and medical history of 14 individuals with NBAS deficiency showed that RALF may present from 4 months to 6.7 years, but is not restricted to childhood, and that ALF crisis, as in our case, could be fatal without a liver transplant [ 28 , 30 ]. Characteristically, these patients presented with recurrent vomiting and increasing lethargy 1 or 2 days after the onset of fever.…”

Section: Discussionmentioning

confidence: 93%

“…Syndromic SOPH-like features and stunted linear growth have been reported in up to 77% of the 22 children with pathological NBAS mutations described to date, while liver cytolytic episodes, which were absent in the original 33 SOPH cases, were present in all 22, but did not necessarily evolve into ALF [ 31 ]. Intermediate phenotypes have recently been described [ 32 ] Antipyretic therapy and anabolic support, including high glucose and parenteral lipids, effectively improve the liver crisis [ 8 , 16 , 28 , 30 ]. As our patient had these characteristics, we tested him for a mutation in the NBAS gene, with positive results.…”

Section: Discussionmentioning

confidence: 99%

NBAS mutations cause acute liver failure: when acetaminophen is not a culprit

et al. 2017

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BackgroundPediatric acute-liver-failure due to acetaminophen (APAP) administration at therapeutic dosage is rare, while viral infections and metabolic defects are the prevalent causes. Yet, as acetaminophen is routinely used in febrile illnesses, it may be mistakenly held responsible for the acute liver damage.Case presentationAn 11 month old boy had been on acetaminophen for 10 days (total dose 720 mg = 72 mg/kg) when he developed acute-liver-failure with encephalopathy. As he rapidly improved on N-acetylcysteine (NAC) infusion, it was concluded that chronic acetaminophen administration in an infant had lead to acute-liver-failure even at therapeutic doses, that N-acetylcysteine infusion had been life-saving and should be immediately started in similar circumstances. The child, however, had two further episodes of acute liver damage over a 34-month period, without having been given acetaminophen, as the parents carefully avoided using it. His clinical, laboratory and radiological findings between the acute episodes were unremarkable. His features and skeletal surveys were not suggestive of a syndromic condition. He then went on to suffer another episode of acute-liver-failure with multi-organ failure, necessitating an urgent liver transplant. All efforts to come to a diagnosis for the causes of his recurrent episodes of liver failure had been unsuccessful, until a biallelic mutation in the NBAS gene was reported to be associated with recurrent acute-liver-failure in children. The boy’s DNA analysis revealed compound heterozygous pathogenic mutations in the NBAS gene. Liver failure episodes in these patients are triggered and worsened by fever, most likely due to thermal susceptibility of hepatocytes, hence APAP, rather than being a culprit, is part of the supportive treatment.ConclusionsWe suggest that, in acute-liver-failure with a history of acetaminophen exposure at therapeutic dosage, clinicians should not be contented with administering NAC, but should consider an alternative etiology, above all if the episodes are recurrent, and actively start supportive and antipyretic treatment while seeking the advice of a specialist unit.

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“…Park et al, 2017 reported on a brother and sister with short stature, progeroid face, normal intelligence, and Pelger‐Hüet anomaly but also frequent upper respiratory infections, elevated serum liver enzymes levels and optic atrophy with foveal hypoplasia not previously reported. Several recent reports have emphasized the occurrence in individuals diagnosed with SOPH syndrome of: RALF (Calvo et al, 2017; Cardenas, DiPaola, Adams, Holtz, & Ahmad, 2017; Lenz et al, 2019; Ono et al, 2019; Regateiro et al, 2017; Rius et al, 2018; Staufner et al, 2015; Wang et al, 2018), ocular manifestations (Nucci et al, 2019), growth hormone deficiency (Li et al, 2018), short stature or severe skeletal involvement (Balasubramanian et al, 2017; Kim et al, 2017; Palagano et al, 2018), and early onset of recurrent or severe infections due to abnormalities in both antibody and cell‐mediated immunity documenting a combined immunodeficiency (Balasubramanian et al, 2017; Capo‐Chichi et al, 2015; Li et al, 2018; Regateiro et al, 2017; Segarra et al, 2015). These individuals required frequent antibiotic treatments, and a few were successfully treated with long‐term IgG replacement therapy (Kim et al, 2017).…”

Section: Introductionmentioning

confidence: 99%

Severe SOPH syndrome due to a novel NBAS mutation in a 27‐year‐old woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades

Lacassie

Johnson

Lay-Son

et al. 2020

American J of Med Genetics Pt A

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Autosomal recessive SOPH syndrome was first described in the Yakuts population of Asia by Maksimova et al. in 2010. It arises from biallelic pathogenic variants in the NBAS gene and is characterized by severe postnatal growth retardation, senile facial appearance, small hands and feet, optic atrophy with loss of visual acuity and color vision, and normal intelligence (OMIM #614800). The presence of Pelger-Hüet anomaly in this disorder led to its name as an acronym for Short stature, Optic nerve atrophy, and Pelger-Hüet anomaly. Recent publications have further contributed to the characterization of this syndrome through additional phenotype-genotype correlations. We review the clinical features described in these publications and report on a 27-year-old woman with dwarfism with osteolysis and multiple skeletal problems, minor anomalies, immunodeficiency, diabetes mellitus, and multiple secondary medical problems. Her condition was considered an unknown autosomal recessive disorder for many years until exome sequencing provided the diagnosis by revealing a founder disease-causing variant that was compound heterozygous with a novel pathogenic variant in NBAS. Based on the major clinical features of this individual and others reported earlier, a revision of the acronym is warranted to facilitate clinical recognition.

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Acute Liver Failure Secondary to Neuroblastoma Amplified Sequence Deficiency

Cited by 10 publications

References 12 publications

Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature

Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature

NBAS mutations cause acute liver failure: when acetaminophen is not a culprit

Severe SOPH syndrome due to a novel NBAS mutation in a 27‐year‐old woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades

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