Neuroblastoma Amplified Sequence Gene Mutations Inducing Acute Kidney and Liver Injury in an Adolescent Female

Abstract

Acute liver injury (ALI) in children is a life-threatening event, and a definitive etiology can be identified in approximately 50% of cases. Neuroblastoma amplified sequence (NBAS) gene mutations have been associated with a broad phenotypic spectrum of this disease, ranging from recurrent episodes of fever-induced liver injuries to multiorgan involvement, including frequent infections as well as skeletal and immunological abnormalities. Here, we describe an adolescent female with a confirmed compound heterozygous NBAS gene mutation who presented with an episode of ALI complicated by severe acute kidney injury (AKI). The kidney injury was most probably driven by an intrinsic insult, as noted by elevated neutrophil gelatinase-associated lipocalin levels and a kidney biopsy demonstrating severe tubular damage consistent with acute tubular necrosis. While the patient’s liver function and mental status showed significant improvement with supportive care, recovery of kidney function was delayed, and the patient required acute hemodialysis. We suggest a causative relation between the NBAS gene mutation and severe AKI.

WES Reveals Novel Heterozygous NBAS Gene Mutations Associated with Fanconi Syndrome in a Patient with SOPH Syndrome: Case Report

“…Several mutations have been previously reported, such as the missense mutations in the NBAS genes, which constitute c.2674G>T, c.1018G>C, and the c.5741G>A mutations [19][20][21][22][23][24][25][26]. These mutations affect the evolutionarily conserved amino acids and can be very damaging thus resulting in liver dysfunction and Pelger-Huet anomaly [18].…”

Living donor liver transplantation for the treatment of recurrent pediatric acute liver failure with neuroblastoma amplified sequence gene mutation: a literature review

“…The NBAS protein is broadly expressed in various organs, including the liver, heart, skeletal muscle, and leukocytes. Many studies reported that NBAS gene mutations were associated with infantile failure syndrome 2 (ILFS2), a fever-induced multi-systemic syndrome known as short stature with optic atrophy and Pelger-Huët anomaly (SOPH) syndrome, and immunode ciency [4,5]. Here, we report the possible rst case of RALF caused by a novel compound heterozygous mutation in the NBAS gene that underwent living donor liver transplantation (LDLT) in China.…”