Mutation in the Neuroblastoma Amplified Sequence Gene as a Cause of Recurrent Acute Liver Failure, Acute Kidney Injury, and Status Epilepticus

Mallakmir, Snehal; Nagral, Aabha; Bagde, Abhijit; Mirza, Darius F.; Merchant, Rashid; Yewale, Vijay

doi:10.1016/j.jceh.2019.03.008

Cited by 4 publications

(1 citation statement)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The syntaxin 18 complex is thermally susceptible, as evidenced by an increased sensitivity to high temperature at the protein and functional levels and a disturbed tethering of vesicles in the skin fibroblasts of patients with NBAS mutations ( 2 ). The catabolic state and high energy consumption during fever further impair the function of the syntaxin 18 complex, resulting in ER stress ( 13 ). ER stress triggers liver cell destruction by accelerating lipogenesis and activating the unfolded protein response ( 14 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Pediatric Recurrent Acute Liver Failure Caused by Neuroblastoma Amplified Sequence (NBAS) Gene Mutations

Jiang

Xiao

et al. 2021

Front. Pediatr.

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%