Jiang Bingxin, Xiao Fangfei, Li Xiaolu, Xiao Yongmei, Wang Yizhong, Zhang Ting
Department of Gastroenterology, Hepatology and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
Institute of Pediatric Infection, Immunity and Critical Care Medicine, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Front Pediatr. 2021 Jan 13;8:607005. doi: 10.3389/fped.2020.607005. eCollection 2020.
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 () 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 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 gene that caused fever-related RALF in a Chinese child, which further expands the mutational spectrum of .
儿童急性肝衰竭（ALF）是一种迅速进展、可能危及生命的疾病，可发生于所有年龄段既往健康的儿童。然而，约50%的儿童ALF病例病因仍不明。我们在此报告一名4岁中国女孩，因神经母细胞瘤扩增序列（）基因突变导致复发性ALF（RALF）。该患者自幼儿期起就多次出现与发热相关的ALF发作。她还患有急性肾损伤、高血压、轻度肺动脉高压、胸腔积液和甲状腺功能减退。通过全外显子组测序（WES）在该基因中鉴定出一种新的复合杂合子突变，即c.3596G>A（p.C1199Y）/ex.9del（p.216 - 248del）。错义突变c.3596G>A（p.C1199Y）遗传自她的父亲，而ex.9del（p.216 - 248del）遗传自她的母亲。该患者接受了强化治疗，如肾脏替代治疗（CRRT）、静脉注射抗生素和葡萄糖输注，完全康复后出院。我们在该基因中鉴定出一种新的复合杂合子突变，该突变在一名中国儿童中导致了与发热相关的RALF，这进一步扩展了该基因的突变谱。
