中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2014年
11期
863-866
,共4页
吴莫龄%刘丽%蔡燕娜%盛慧英%程静%李秀珍%尹曦%卢致琨%林瑞珠
吳莫齡%劉麗%蔡燕娜%盛慧英%程靜%李秀珍%尹晞%盧緻琨%林瑞珠
오막령%류려%채연나%성혜영%정정%리수진%윤희%로치곤%림서주
丙酮酸脱氢酶复合物缺乏症%Leigh病%基因%突变
丙酮痠脫氫酶複閤物缺乏癥%Leigh病%基因%突變
병동산탈경매복합물결핍증%Leigh병%기인%돌변
Pyruvate dehydrogenase complex deficiency diseases%Leigh disease%Gene%Mutation
目的 分析1例丙酮酸脱氢酶复合物缺乏症患儿的临床表现及其基因突变特点.方法 对广州医科大学附属广州市妇女儿童医疗中心2013年9-12月确诊的1例丙酮酸脱氢酶复合物缺乏症患儿临床症状、体征特点、生化检测结果、治疗效果进行分析,运用PCR法扩增外周血PDHA1基因的11个外显子及与内含子拼接区,对扩增片段采用直接测序方法检测突变.通过PDHA1基因分析,确诊丙酮酸脱氢酶复合物缺乏症.结果 患儿男,2岁4个月,反复发作性双下肢无力1年余,间断出现抬头无力,独坐不稳,不能独站,持续性高乳酸血症.血乳酸5.37 mmol/L,丙酮酸0.44 mmol/L,乳酸/丙酮酸12.23,脑MRI提示双侧基底节苍白球条状异常信号,T2WI和T2WIFlair高信号.PDHA1基因分析显示,c.788G＞A(p.R263Q)突变,确诊丙酮酸脱氢酶复合物缺乏症.给予生酮饮食、维生素B1、辅酶Q10和左旋肉碱治疗,病情稳定.结论 PDHA1突变所致的丙酮酸脱氢酶复合物缺乏症临床表现复杂多样.PDHA1基因出现c.788G＞A(p.R263Q)突变.对不明原因的肢体无力、高乳酸血症,可通过基因分析诊断.合理治疗可以稳定病情.
目的 分析1例丙酮痠脫氫酶複閤物缺乏癥患兒的臨床錶現及其基因突變特點.方法 對廣州醫科大學附屬廣州市婦女兒童醫療中心2013年9-12月確診的1例丙酮痠脫氫酶複閤物缺乏癥患兒臨床癥狀、體徵特點、生化檢測結果、治療效果進行分析,運用PCR法擴增外週血PDHA1基因的11箇外顯子及與內含子拼接區,對擴增片段採用直接測序方法檢測突變.通過PDHA1基因分析,確診丙酮痠脫氫酶複閤物缺乏癥.結果 患兒男,2歲4箇月,反複髮作性雙下肢無力1年餘,間斷齣現抬頭無力,獨坐不穩,不能獨站,持續性高乳痠血癥.血乳痠5.37 mmol/L,丙酮痠0.44 mmol/L,乳痠/丙酮痠12.23,腦MRI提示雙側基底節蒼白毬條狀異常信號,T2WI和T2WIFlair高信號.PDHA1基因分析顯示,c.788G＞A(p.R263Q)突變,確診丙酮痠脫氫酶複閤物缺乏癥.給予生酮飲食、維生素B1、輔酶Q10和左鏇肉堿治療,病情穩定.結論 PDHA1突變所緻的丙酮痠脫氫酶複閤物缺乏癥臨床錶現複雜多樣.PDHA1基因齣現c.788G＞A(p.R263Q)突變.對不明原因的肢體無力、高乳痠血癥,可通過基因分析診斷.閤理治療可以穩定病情.
목적 분석1례병동산탈경매복합물결핍증환인적림상표현급기기인돌변특점.방법 대엄주의과대학부속엄주시부녀인동의료중심2013년9-12월학진적1례병동산탈경매복합물결핍증환인림상증상、체정특점、생화검측결과、치료효과진행분석,운용PCR법확증외주혈PDHA1기인적11개외현자급여내함자병접구,대확증편단채용직접측서방법검측돌변.통과PDHA1기인분석,학진병동산탈경매복합물결핍증.결과 환인남,2세4개월,반복발작성쌍하지무력1년여,간단출현태두무력,독좌불은,불능독참,지속성고유산혈증.혈유산5.37 mmol/L,병동산0.44 mmol/L,유산/병동산12.23,뇌MRI제시쌍측기저절창백구조상이상신호,T2WI화T2WIFlair고신호.PDHA1기인분석현시,c.788G＞A(p.R263Q)돌변,학진병동산탈경매복합물결핍증.급여생동음식、유생소B1、보매Q10화좌선육감치료,병정은정.결론 PDHA1돌변소치적병동산탈경매복합물결핍증림상표현복잡다양.PDHA1기인출현c.788G＞A(p.R263Q)돌변.대불명원인적지체무력、고유산혈증,가통과기인분석진단.합리치료가이은정병정.
Objective To analyze the clinical characteristics and genetype of one children who had been diagnosed with pyruvate dehydrogenase complex deficiency.Method Comprehensive analyses of this case were performed,including clinical symptoms,signs,biochemical examinations and therapeutic effects.The eleven exons and splicing areas of PDHA1 were amplified with genomic DNA from whole blood.And variations were investigated by sequencing the PCR product.The patient was diagnosed with pyruvate dehydrogenase complex deficiency by sequence analysis of PDHA1 gene.Result The patient was a 2 years and 4 monthes old boy.He presented with muscle hypotonia and weakness for one year,and experienced recurrent episodes of unstable head control,unable to sit by himself or stand without support,with persistently hyperlactacidemia.Metabolic testing revealed blood lactate 5.37 mmol/L,pyruvate 0.44 mmol/L,and lactate/pyruvate ratio was 12.23.MRI of the brain showed hyperintense signals on the T2 and T2 Flair weighted images in the basal ganglia bilaterally.Sequence analysis of PDHA1 gene showed a G ＞ A point mutation at nucleotide 778,resulting in a substitution of glutarnine for arginine at position 263 (R263Q).And the diagnosis of pyruvate dehydrogenase complex deficiency was identified.By giving the therapy with ketogenic diet,vitamin B1,coenzyme Q10 and L-carnitine,the boy was in a stable condition.Conclusion The severity and the clinical phenotypes of pyruvate dehydrogenase complex deficiency varied.Sequence analysis of PDHAI gene revealed a 788G ＞ A (R263Q) mutation.Patients who presented with unexplained muscle hypotonia,weakness and hyperlactacidemia could be diveded by gene analysis.And appropriate treatment can improve the quality of life.
