本文選題：先天性全身脂肪營養(yǎng)不良　切入點(diǎn)：BSCL基因　出處：《臨床兒科雜志》2017年07期 　論文類型：期刊論文

【摘要】：目的探討先天性全身脂肪營養(yǎng)不良癥(CGL)的臨床及基因特點(diǎn)。方法回顧分析1例BSCL2基因突變致CGL患兒的臨床資料,并進(jìn)行文獻(xiàn)復(fù)習(xí)。結(jié)果女性患兒,2歲9個(gè)月,臨床表現(xiàn)為全身脂肪組織消失,黑棘皮征,肝脾大,輕度智力低下;實(shí)驗(yàn)室檢查示高三酰甘油血癥、高胰島素血癥和心肌病變。提取患兒及父母外周血,對(duì)AGPAT2、BSCL2、CAV1和PTRF 4個(gè)基因行Sanger測序顯示,患兒存在BSCL2基因雜合突變,分別為母源移碼突變(c.567-568del GA,p.E 189 Efs X 12)及父源無義突變(c.565 GT,p.E 189 X),均為致病突變�；仡櫸墨I(xiàn),BSCL2基因突變是亞洲CGL最常見的病因,BSCL2突變的CGL患兒常見臨床表現(xiàn)為全身脂肪組織消失、黑棘皮征和肝脾大,心肌病變和智力低下發(fā)生率分別為40%和30%。結(jié)論 BSCL2基因突變引起的CGL主要臨床表現(xiàn)為自幼全身脂肪組織消失及代謝紊亂,常伴有心肌病變和智力低下,對(duì)疑似患兒應(yīng)盡早行基因分析確診。
[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.

【作者單位】： 中國醫(yī)學(xué)科學(xué)院北京協(xié)和醫(yī)學(xué)院北京協(xié)和醫(yī)院兒科;
【分類號(hào)】：R725.9

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1 李清華;劉承偉;林劍鋒;林小慧;陳梅玲;吳嵐;;dHMN-V型家系BSCL2基因和GARS基因突變分析[J];第三軍醫(yī)大學(xué)學(xué)報(bào);2010年19期

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