临床儿科杂志
臨床兒科雜誌
림상인과잡지
2014年
5期
459-461
,共3页
饶姣%李渝芬%王树水%张智伟%张程%曾国洪
饒姣%李渝芬%王樹水%張智偉%張程%曾國洪
요교%리투분%왕수수%장지위%장정%증국홍
心肌病%原发性肉碱缺乏症%糖原累积病%黏多糖贮积症%儿童
心肌病%原髮性肉堿缺乏癥%糖原纍積病%黏多糖貯積癥%兒童
심기병%원발성육감결핍증%당원루적병%점다당저적증%인동
cardiomyopathy%primary carnitine dificiency%glycogen accumulation disease%mucopolysaccharidosis%child
目的:总结代谢性心肌病的诊断及治疗。方法回顾性分析2012年1月至2013年10月通过串联质谱检查、血清酶学检测、尿黏多糖检测及基因检测等方法确诊的11例代谢性心肌病患儿的临床资料。结果11例患儿中有6例经血串联质谱检测及SLC22A5基因测序确诊为原发性肉碱缺乏症(primary carnitine deficiency,PCD),4例经外周血α-酸性葡萄糖苷酶活性测定确诊为糖原累积病Ⅱ型(glycogen storage disease,GSDⅡ),1例经尿黏多糖定性检测确诊为黏多糖贮积症(mucopolysaccharidosis,MPS)。6例PCD患儿予以补充左旋肉碱及抗心力衰竭治疗后随访2~10个月,心功能均恢复至正常;4例GSD和1例MPS患儿因缺乏有效治疗在诊断后数天~5个月内死亡。结论遗传性代谢缺陷是儿童心肌病的重要病因,不同代谢缺陷所致心肌病的临床表现、诊断方法、治疗方法以及预后不同,早期确诊及针对性治疗可逆转部分代谢性心肌病。
目的:總結代謝性心肌病的診斷及治療。方法迴顧性分析2012年1月至2013年10月通過串聯質譜檢查、血清酶學檢測、尿黏多糖檢測及基因檢測等方法確診的11例代謝性心肌病患兒的臨床資料。結果11例患兒中有6例經血串聯質譜檢測及SLC22A5基因測序確診為原髮性肉堿缺乏癥(primary carnitine deficiency,PCD),4例經外週血α-痠性葡萄糖苷酶活性測定確診為糖原纍積病Ⅱ型(glycogen storage disease,GSDⅡ),1例經尿黏多糖定性檢測確診為黏多糖貯積癥(mucopolysaccharidosis,MPS)。6例PCD患兒予以補充左鏇肉堿及抗心力衰竭治療後隨訪2~10箇月,心功能均恢複至正常;4例GSD和1例MPS患兒因缺乏有效治療在診斷後數天~5箇月內死亡。結論遺傳性代謝缺陷是兒童心肌病的重要病因,不同代謝缺陷所緻心肌病的臨床錶現、診斷方法、治療方法以及預後不同,早期確診及針對性治療可逆轉部分代謝性心肌病。
목적:총결대사성심기병적진단급치료。방법회고성분석2012년1월지2013년10월통과천련질보검사、혈청매학검측、뇨점다당검측급기인검측등방법학진적11례대사성심기병환인적림상자료。결과11례환인중유6례경혈천련질보검측급SLC22A5기인측서학진위원발성육감결핍증(primary carnitine deficiency,PCD),4례경외주혈α-산성포도당감매활성측정학진위당원루적병Ⅱ형(glycogen storage disease,GSDⅡ),1례경뇨점다당정성검측학진위점다당저적증(mucopolysaccharidosis,MPS)。6례PCD환인여이보충좌선육감급항심력쇠갈치료후수방2~10개월,심공능균회복지정상;4례GSD화1례MPS환인인결핍유효치료재진단후수천~5개월내사망。결론유전성대사결함시인동심기병적중요병인,불동대사결함소치심기병적림상표현、진단방법、치료방법이급예후불동,조기학진급침대성치료가역전부분대사성심기병。
Objectives To summarize the diagnosis and treatment of cardiomyopathy caused by inborn errors of metabo-lism (IEM). Methods The retrospective study included 11 cases diagnosed as metabolic cardiomyopathy through tandem mass spectrometry, activity of serum enzyme, detection of urine mucopolysaccharide and gene analysis from 2012 to 2013. Six cases were diagnosed as primary carnitine deficiency (PCD). Four cases were diagnosed as glycogen storage disease (GSD) and only 1 case was diagnosed as mucopolysaccharidosis. Six PCD cases received carnitine supplementation and anti-heart failure thera-py and received follow-up for 2-10 months. Other 5 cases received supportive treatment and follow-up. Results Patients with PCD recovered soon after treatment but other 5 cases have died within 5 months. Conclusion IEM is an important cause of chil-dren cardiomyopathy which varied in clinical manifestation, diagnosis, treatment and prognosis of different kinds of metabolic cardiomyopathy. Early diagnosis and treatment could be lifesaving for cardiomyopathy caused by IEM.