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Case Report: Pediatric Recurrent Acute Liver Failure Caused by Neuroblastoma Amplified Sequence (NBAS) Gene Mutations
Bingxin Jiang1, Fangfei Xiao1, Xiaolu Li1
1Department of Gastroenterology, Hepatology and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
Insights
A novel mutation in the neuroblastoma amplified sequence (NBAS) gene caused recurrent acute liver failure (ALF) in a young Chinese girl. This finding expands the known genetic causes of pediatric ALF.
Area of Science:
- Genetics
- Pediatrics
- Hepatology
Background:
- Acute liver failure (ALF) in children is a severe condition with unknown causes in about half of cases.
- Recurrent ALF (RALF) presents unique diagnostic challenges.
- Genetic factors are increasingly recognized in pediatric ALF.
Observation:
- A 4-year-old Chinese girl experienced recurrent, fever-related ALF since early childhood.
- Associated conditions included acute kidney injury, hypertension, and hypothyroidism.
- Whole-exome sequencing identified compound heterozygote mutations (c.3596G>A/ex.9del) in the NBAS gene.
Findings:
- A novel compound heterozygote mutation in the NBAS gene was identified as the cause of fever-related RALF.
- The mutation was inherited paternally (c.3596G>A) and maternally (ex.9del).
- This expands the known spectrum of NBAS gene mutations associated with pediatric liver disease.
Implications:
- Identifies a specific genetic etiology for a subset of pediatric recurrent acute liver failure.
- Highlights the importance of genetic testing in unexplained pediatric ALF.
- Contributes to understanding NBAS-related disorders and their clinical manifestations.
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.
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