【摘要】：目的診斷1例COG6基因復合雜合突變所致的先天性糖基化障礙(CDG),為CDG患兒的的早期診斷、制定干預措施和結局預測提供依據(jù)。方法總結1例攜帶有COG6復合雜合突變的CDG患兒的臨床表型、家系sanger驗證信息、影像學表現(xiàn)、實驗室檢查和隨訪信息,對COG6及其他Golgi復合體(COG)基因突變所致CDG的疾病表型行文獻復習。結果患兒因早產、生后反復氣促吐沫1月余就診,主要表現(xiàn)為不明原因反復高熱伴肝酶異常,皮膚少汗,異常面容,并存在心、肺、腎、凝血和神經系統(tǒng)異常。行核心家系全外顯子組檢測發(fā)現(xiàn)COG6基因復合雜合突變c.511CT(p.R171X)和c.540GA(p.E180E),c.511CT來源于母親,是人類基因突變數(shù)據(jù)庫(HGMD)已報道的CDGⅡ型的致病突變;c.540GA來源于父親,為新發(fā)突變。匯總專業(yè)版HGMD已報道的COG6-CDG患兒9例加本文1例共10例表型(CDGⅡ型),異常面容,可表現(xiàn)為肝、皮膚、心臟、腎臟、骨骼、關節(jié)、凝血、免疫、神經系、聽力和視覺異�；蚱渌蔚�,多數(shù)患兒生長發(fā)育遲緩,預后不良,5例病死,存活者均進展為嚴重肝功能障礙伴反復感染。比COG-CDG其他亞型,臨床表現(xiàn)更豐富、病情偏重且預后差。結論新生兒期表現(xiàn)為不明原因高熱伴肝酶異常,皮膚少汗,肌張力異常,或存在心、腎、免疫和凝血等多器官和系統(tǒng)功能異常的患兒,應高度懷疑COG6-CDG,此類患兒多數(shù)生長發(fā)育遲緩,預后不良,新生兒期通過基因測序可早期診斷。
[Abstract]:Objective to diagnose a case of congenital glycosylation disorder (CDG),) caused by complex heterozygosity mutation of COG6 gene for early diagnosis of children with CDG and to provide evidence for intervention and outcome prediction. Methods the clinical phenotypes, family sanger verification information, imaging findings, laboratory examination and follow-up information of a child with COG6 heterozygosity were summarized. The disease phenotypes of CDG caused by (COG) gene mutations in COG6 and other Golgi complexes were reviewed. Results due to preterm labor, repeated puffing and spitting for one month after birth, the main manifestations were repeated high fever with liver enzyme abnormality, skin less sweat, abnormal face and abnormal heart, lung, kidney, coagulation and nervous system. COG6 gene complex heterozygosity c.511CT (p.R171X) and c.540GA (p.E180E) were found in nuclear pedigree. C.511CT originated from mother. C.511CT was the pathogenic mutation of CDG 鈪，

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