本文選題：靶向基因測序 + 低血糖��； 參考：《臨床兒科雜志》2017年12期

【摘要】：目的分析遺傳性果糖不耐受癥(HFI)的臨床及基因突變特點。方法回顧分析1例HFI患兒的臨床特征以及患兒及其父母的基因檢測結(jié)果�；驒z測采用高通量測序方法,并以Sanger測序進行驗證。結(jié)果患兒,女,4歲3個月。表現(xiàn)為反復(fù)低血糖發(fā)作,明顯生長落后。病情穩(wěn)定時乳酸、尿微量蛋白稍高,甲狀腺激素、皮質(zhì)醇、糖化血紅蛋白、胰島素、C肽等無異常。腦電圖示癇樣活動�；驕y序顯示存在醛縮酶B基因(ALDOB)復(fù)合雜合突變,3號內(nèi)含子發(fā)現(xiàn)剪切突變(c.325-1GA),8號外顯子移碼突變(c.865del C;p.L289fs*10);其父親攜帶移碼突變,母親攜帶剪切突變。結(jié)論通過高通量測序技術(shù),可確診由ALDOB突變致病的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.
【作者單位】： 安徽省蚌埠市第三人民醫(yī)院;上海交通大學(xué)醫(yī)學(xué)院附屬上海兒童醫(yī)學(xué)中心;
【分類號】：R725.9

【相似文獻】

相關(guān)期刊論文 前10條

1 孫玲玲;陳運生;余珍珠;黃寶興;徐剛;馬東禮;李長鋼;劉磊;劉曉紅;;新生兒高未結(jié)合膽紅素血癥遺傳因素的研究[J];中國當(dāng)代兒科雜志;2012年04期

2 韓振靚,李堂;SHOX基因在矮身材中的研究進展[J];國外醫(yī)學(xué).內(nèi)分泌學(xué)分冊;2005年04期

3 李端;劉麗;;多種羧化酶缺陷癥基因突變研究進展[J];醫(yī)學(xué)綜述;2007年07期

4 韓蓓,李堂;兒童肝豆?fàn)詈俗冃曰蛲蛔兂醪窖芯縖J];山東醫(yī)藥;2000年10期

5 蹇在伏;唐發(fā)清;陳方平;解勤之;王光平;;一種新的GPⅡb基因540A缺失移碼突變引起的血小板無力癥[J];中南大學(xué)學(xué)報(醫(yī)學(xué)版);2008年02期

6 關(guān)s，

本文編號：1951463