儿童遗传性果糖不耐受症1例临床和基因突变分析

发布时间：2018-05-29 15:57

本文选题：靶向基因测序 + 低血糖　；参考：《临床儿科杂志》2017年12期

【摘要】：目的分析遗传性果糖不耐受症(HFI)的临床及基因突变特点。方法回顾分析1例HFI患儿的临床特征以及患儿及其父母的基因检测结果。基因检测采用高通量测序方法,并以Sanger测序进行验证。结果患儿,女,4岁3个月。表现为反复低血糖发作,明显生长落后。病情稳定时乳酸、尿微量蛋白稍高,甲状腺激素、皮质醇、糖化血红蛋白、胰岛素、C肽等无异常。脑电图示痫样活动。基因测序显示存在醛缩酶B基因(ALDOB)复合杂合突变,3号内含子发现剪切突变(c.325-1GA),8号外显子移码突变(c.865del C;p.L289fs*10);其父亲携带移码突变,母亲携带剪切突变。结论通过高通量测序技术,可确诊由ALDOB突变致病的HFI。
[Abstract]:Objective to analyze the clinical and gene mutation characteristics of hereditary fructose intolerance (HFI). Methods the clinical features of one case with HFI and the results of gene detection of their parents were analyzed retrospectively. The method of high throughput sequencing was used to detect the gene, and Sanger sequencing was used to verify it. Results the children were 4 years old and 3 months old. The symptom is repeated hypoglycemia attack, the growth is obviously backward. Stable condition of lactic acid, urinary trace protein slightly higher, thyroid hormone, cortisol, glycosylated hemoglobin, insulin C peptide and so on no abnormal. EEG showed epileptiform activity. Gene sequencing showed that there was a compound heterozygosity mutation of aldolase B gene (ALDOB). The cleavage mutation was found in intron 3 (C. 325-1GAA), exon 8 in exon 865del C + p. L289fsB10, and its father carried a frameshift mutation, while its mother carried a shearing mutation. Conclusion High throughput sequencing technique can be used to diagnose HFI caused by ALDOB mutation.
【作者单位】：安徽省蚌埠市第三人民医院;上海交通大学医学院附属上海儿童医学中心;
【分类号】：R725.9

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