NBAS基因缺陷症一家系报告及文献复习

Case report and literature review of two cases of NBAS gene deficiency in a family

目的探讨NBAS基因缺陷症的发病机制及其诊断和治疗。方法回顾分析一家系2例NBAS基因缺陷症患儿的临床资料。结果先证者为14岁6月龄男性患儿,其妹妹7岁11月龄,2例患儿均有早老面容、视神经萎缩、色盲、身材矮小、肝功能异常等。血涂片均有Pelger-Huët细胞。基因检测示2例患儿均存在NBAS基因变异c.5752A>C和c.1599+1G>C,分别来自其父母。其中c.5752A>C变异已有文献报道,c.1599+1G>C变异为新剪切突变。随着年龄增长,未经特殊治疗,兄妹的肝功能均有明显好转。结论NBAS基因缺陷症主要累及视神经、肝脏、骨骼等,确诊需依靠基因检测,目前无特异治疗方法。

Objective To investigate the pathogenesis,clinical features,diagnosis and treatment of diseases caused by NBAS gene deficiency.Methods Retrospectively analyze the clinical features,laboratory tests,genetic diagnosis,treatments and prognosis of two children with NBAS gene deficiency.Results The proband is a 14 years and 6-months old boy,and his younger sister is 7-years and 11-months old.Both patients have progeroid face,optic atrophy,achromatopsia,short stature,liver dysfunction,hyperammonemia and hyperlactemia.Blood smear staining suggested abnormal Pelger-Huët granulocytes.The gene detection showed both the proband and his younger sister had c.5752A>C and c.1599+1G>C compound heterozygous mutations in NBAS gene inherited from their parents.c.5752A>C was already reported while c.1599+1G>C is a novel splicing mutation.Even without special treatment,the liver function of both patients has improved significantly with age.Conclusions NBAS gene deficiency is a rare disease affecting optic nerves,liver and skeletal system.Patients mainly presented with progeroid face,optic atrophy,short stature and hepatic dysfunction.Genetic analysis was helpful for diagnosis.Currently,there is no specific treatment of this disease,and usually symptomatic treatment was applied.