Abstract
Acute liver failure (ALF) in childhood is a rapidly progressive, potentially life-threatening condition that occurs in previously healthy children of all ages. However, the etiology of ~50% of cases with pediatric ALF remains unknown. We herein report a 4-year-old Chinese girl with recurrent ALF (RALF) due to a mutation in the neuroblastoma amplified sequence (NBAS) gene. The patient had suffered from multiple episodes of fever-related ALF since early childhood. She had also suffered from acute kidney injury, hypertension, mild pulmonary hypertension, pleural effusion, and hypothyroidism. A novel compound heterozygote mutation, c.3596G> A (p.C1199Y)/ex.9del (p.216-248del), in the NBAS gene was identified by whole-exome sequencing (WES). The missense mutation c.3596G> A (p. C1199Y) was inherited from her father, and ex.9del (p.216-248del) was inherited from her mother. The patient was managed with intensive treatments, such as renal replacement therapy (CRRT), intravenous antibiotics, and glucose infusion, and was discharged after full recovery. We identified a novel compound heterozygote mutation in the NBAS gene that caused fever-related RALF in a Chinese child, which further expands the mutational spectrum of NBAS.
Highlights
Acute liver failure (ALF) in childhood is a rapidly progressive, potentially life-threatening condition that occurs in previously healthy children of all ages
We presented a Chinese pediatric recurrent acute liver failure (RALF) case with a novel compound heterozygote mutation, c.3596G> A (p.C1199Y)/ex.9del (p.216-248del), in the neuroblastoma amplified sequence (NBAS) gene
The ex.9 del (p.216248del) variant is located in the β-propeller and is predicted to be deleterious in silico, which was first reported in this study
Summary
Acute liver failure (ALF) in childhood is a rapidly progressive, potentially life-threatening condition that occurs in previously healthy children of all ages. Neuroblastoma amplified sequence (NBAS) gene mutations were identified as a novel cause of pediatric recurrent acute liver failure (RALF) by Haack et al [2]. Due to its wide expression, NBAS gene mutations can induce a wide range of clinical symptoms, ranging from isolated fever-related RALF. Physical examination (PE) of the patient showed normal cognitive function without confusion, personality changes, disorientation, or consciousness disturbance. It revealed mild jaundice, enlarged tonsils, and palpable hepatomegaly (1–2 cm below the costal margin) without splenomegaly. Variant filtering, and prioritization, a novel compound heterozygote mutation, c.3596G> A (p.C1199Y)/ex.9del (p.216248del) in NBAS was identified (Figure 1A). During the recent 9-month follow-up period, she had complete clinical and biochemical recovery and did not require any additional treatment
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