神经母细胞瘤扩增序列基因缺陷研究进展  

Research advances in NBAS gene defect

作　　者：周妍杉 谭书江[1] ZHOU Yan-shan;TAN Shu-jiang(Department of Pediatrics,Chongqing Fuling Central Hospital,Chongqing 408000,China)

机构地区：[1]重庆市涪陵中心医院儿科,重庆408000

出　　处：《中国儿童保健杂志》2022年第7期737-740,共4页Chinese Journal of Child Health Care

摘　　要：神经母细胞瘤扩增序列基因(NBAS基因)缺陷可导致常染色体隐性遗传病,是一种罕见的基因缺陷。该基因缺陷可累及全身多个系统。临床主要表现有身材矮小、视神经萎缩、Pelger-Hu3t细胞畸形及与发热相关的肝功能衰竭。本文主要从NBAS基因缺陷可能的发病机制、基因缺陷与表型的关系、临床表现、治疗、诊断和预后作一综述。Neuroblastoma amplified sequence(NBAS) gene deficiency can lead to autosomal recessive hereditary disease, which is a rare genetic defect. Besides, NBAS gene deficiency can affect multiple systems. The main clinical manifestations include short stature, optic atrophy, Pelger-Huet cell malformation and febrile related liver failure. This article mainly reviews the possible pathogenesis of NBAS gene defects, the relationship between gene defects and phenotypes, clinical manifestations, treatment, diagnosis, and prognosis of NBAS gene defects.

关 键 词：NBAS基因 NMD通路 肝衰竭 

分 类 号：R596[医药卫生—内科学]