BSCL2基因突变致先天性全身脂肪营养不良症1例报告并文献复习

发布时间：2018-03-17 06:07

本文选题：先天性全身脂肪营养不良　切入点：BSCL基因　出处：《临床儿科杂志》2017年07期 　论文类型：期刊论文

【摘要】：目的探讨先天性全身脂肪营养不良症(CGL)的临床及基因特点。方法回顾分析1例BSCL2基因突变致CGL患儿的临床资料,并进行文献复习。结果女性患儿,2岁9个月,临床表现为全身脂肪组织消失,黑棘皮征,肝脾大,轻度智力低下;实验室检查示高三酰甘油血症、高胰岛素血症和心肌病变。提取患儿及父母外周血,对AGPAT2、BSCL2、CAV1和PTRF 4个基因行Sanger测序显示,患儿存在BSCL2基因杂合突变,分别为母源移码突变(c.567-568del GA,p.E 189 Efs X 12)及父源无义突变(c.565 GT,p.E 189 X),均为致病突变。回顾文献,BSCL2基因突变是亚洲CGL最常见的病因,BSCL2突变的CGL患儿常见临床表现为全身脂肪组织消失、黑棘皮征和肝脾大,心肌病变和智力低下发生率分别为40%和30%。结论 BSCL2基因突变引起的CGL主要临床表现为自幼全身脂肪组织消失及代谢紊乱,常伴有心肌病变和智力低下,对疑似患儿应尽早行基因分析确诊。
[Abstract]:Objective to investigate the congenital generalized lipodystrophy dystrophy (CGL) gene and the clinical features. Methods a retrospective analysis of clinical data of 1 cases of BSCL2 gene mutation in CGL patients, and to review the literature. Results the female patient, 2 years and 9 months, the clinical manifestations of body fat tissue disappeared, acanthosis nigricans syndrome, liver and spleen. Laboratory examination showed mild mental retardation; hypertriglyceridemia, hyperinsulinemia and myocardial lesions. The extraction of children and their parents in peripheral blood, AGPAT2, BSCL2, CAV1 and PTRF 4 genes for Sanger sequencing showed that children with heterozygous BSCL2 mutations, respectively maternal frameshift mutation (c.567-568del GA, p.E 189 Efs X 12) and paternal nonsense mutations (c.565 GT, p.E X, 189) are pathogenic mutations. Review of the literature, BSCL2 gene mutation is the most common cause of Asian CGL, BSCL2 mutation CGL were common clinical symptoms disappeared as body fat tissue, and acanthosis nigricans syndrome Hepatosplenomegaly, myocardial pathological changes and the incidence of mental retardation was 40% and 30%. respectively. Conclusion BSCL2 gene mutation is the main clinical manifestations of CGL due to his disappearance and metabolic disorder of body fat tissue, often accompanied by myocardial lesions and mental retardation in children suspected of gene analysis should be performed as early as possible diagnosis.

【作者单位】：中国医学科学院北京协和医学院北京协和医院儿科;
【分类号】：R725.9

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