中华实用儿科临床杂志
中華實用兒科臨床雜誌
중화실용인과림상잡지
Journal of Applied Clinical Pediatrics
2015年
20期
1538-1541
,共4页
刘玉鹏%丁圆%李溪远%宋金青%吴桐菲%王立文%李梦秋%秦亚萍%黄昱%杨艳玲
劉玉鵬%丁圓%李溪遠%宋金青%吳桐菲%王立文%李夢鞦%秦亞萍%黃昱%楊豔玲
류옥붕%정원%리계원%송금청%오동비%왕립문%리몽추%진아평%황욱%양염령
有机酸尿症%甲基丙二酸尿症%MUT%MMAA%MMAB%遗传代谢病
有機痠尿癥%甲基丙二痠尿癥%MUT%MMAA%MMAB%遺傳代謝病
유궤산뇨증%갑기병이산뇨증%MUT%MMAA%MMAB%유전대사병
Organic aciduria%Methylmalonic aciduria%MUT%MMAA%MMAB%Inherited metabolic disease
目的：探讨单纯型甲基丙二酸尿症患者的临床、生化及基因特点。方法选取2001年1月至2014年12月北京大学第一医院诊断的126例单纯型甲基丙二酸尿症患者，男81例，女45例。其中60例行基因分析。对患儿的临床经过、生化特点、影像学异常、基因型及预后等进行研究。结果126例患儿中仅3例（2.4％）为新生儿筛查发现，于1个月左右开始饮食与维生素 B12、左卡尼汀支持治疗，无症状；123例（97.6％）患儿为临床高危筛查发现，于出生后数小时~7岁11个月发病，主要表现为反复呕吐、喂养困难、发育落后、嗜睡、呼吸困难、昏迷、抽搐、皮肤损害、黄疸等。27例（21.4％）有异常家族史，有同胞不明原因死亡或残障。一般辅助检查常见异常为代谢性酸中毒、贫血。头颅 MRI 异常以双侧基底核对称性损害及白质改变为主。60例接受基因分析的患者中，MUT 缺陷58例，MMAA 缺陷、MMAB 缺陷各1例。MUT 基因缺陷中共检出46种突变，其中12种为新突变。112例患儿经治疗后临床症状改善，但仍遗留不同程度的智力运动障碍及多脏器损伤。11例（8.73％）患儿死亡。仅3例智力运动发育正常。结论单纯型甲基丙二酸尿症患者临床表现复杂，易出现代谢危象，MUT 基因缺陷是主要病因，早期诊断、合理治疗至关重要。新生儿筛查是早期发现甲基丙二酸尿症的关键。
目的：探討單純型甲基丙二痠尿癥患者的臨床、生化及基因特點。方法選取2001年1月至2014年12月北京大學第一醫院診斷的126例單純型甲基丙二痠尿癥患者，男81例，女45例。其中60例行基因分析。對患兒的臨床經過、生化特點、影像學異常、基因型及預後等進行研究。結果126例患兒中僅3例（2.4％）為新生兒篩查髮現，于1箇月左右開始飲食與維生素 B12、左卡尼汀支持治療，無癥狀；123例（97.6％）患兒為臨床高危篩查髮現，于齣生後數小時~7歲11箇月髮病，主要錶現為反複嘔吐、餵養睏難、髮育落後、嗜睡、呼吸睏難、昏迷、抽搐、皮膚損害、黃疸等。27例（21.4％）有異常傢族史，有同胞不明原因死亡或殘障。一般輔助檢查常見異常為代謝性痠中毒、貧血。頭顱 MRI 異常以雙側基底覈對稱性損害及白質改變為主。60例接受基因分析的患者中，MUT 缺陷58例，MMAA 缺陷、MMAB 缺陷各1例。MUT 基因缺陷中共檢齣46種突變，其中12種為新突變。112例患兒經治療後臨床癥狀改善，但仍遺留不同程度的智力運動障礙及多髒器損傷。11例（8.73％）患兒死亡。僅3例智力運動髮育正常。結論單純型甲基丙二痠尿癥患者臨床錶現複雜，易齣現代謝危象，MUT 基因缺陷是主要病因，早期診斷、閤理治療至關重要。新生兒篩查是早期髮現甲基丙二痠尿癥的關鍵。
목적：탐토단순형갑기병이산뇨증환자적림상、생화급기인특점。방법선취2001년1월지2014년12월북경대학제일의원진단적126례단순형갑기병이산뇨증환자，남81례，녀45례。기중60례행기인분석。대환인적림상경과、생화특점、영상학이상、기인형급예후등진행연구。결과126례환인중부3례（2.4％）위신생인사사발현，우1개월좌우개시음식여유생소 B12、좌잡니정지지치료，무증상；123례（97.6％）환인위림상고위사사발현，우출생후수소시~7세11개월발병，주요표현위반복구토、위양곤난、발육락후、기수、호흡곤난、혼미、추휵、피부손해、황달등。27례（21.4％）유이상가족사，유동포불명원인사망혹잔장。일반보조검사상견이상위대사성산중독、빈혈。두로 MRI 이상이쌍측기저핵대칭성손해급백질개변위주。60례접수기인분석적환자중，MUT 결함58례，MMAA 결함、MMAB 결함각1례。MUT 기인결함중공검출46충돌변，기중12충위신돌변。112례환인경치료후림상증상개선，단잉유류불동정도적지력운동장애급다장기손상。11례（8.73％）환인사망。부3례지력운동발육정상。결론단순형갑기병이산뇨증환자림상표현복잡，역출현대사위상，MUT 기인결함시주요병인，조기진단、합리치료지관중요。신생인사사시조기발현갑기병이산뇨증적관건。
Objective To investigate the clinical,biochemical and genetic findings in patients with isolated methylmalonic aciduria. Methods From January 2001 to December 2014,a total of 126 patients with isolated methyl-malonic aciduria from Peking University First Hospital were enrolled in this study. In 60 patients,gene analysis was per-formed. The clinical characteristics,laboratory findings,treatment and outcomes were retrospectively analyzed. Results Among the 126 patients,only 3 cases(2. 4% )were detected through newborn screening and treated with dietary in-tervention,cobalamin and L - camitine. The age at onset of 123 cases(97. 6% )varied from a few hours after birth to 7 years and 11 months old. The common presentations were recurrent vomiting,mental retardation,poor feeding,lethargy, respiratory distress,coma,seizures,cutaneous lesion and jaundice with 11 patients(8. 73% )dead. Abnormal family his-tory was found in 27(21. 4% )patients. Metabolic acidosis and anemia were frequent laboratory findings. Basal ganglia damage and white matter changes were observed in most patients. Sixty patients got genetic analysis,and 58 cases of them had MUT gene mutations. One case had MMAA defect. One case had MMAB defect. In MUT gene,12 novel muta-tions were identified. After treatment,mild to severe psychomotor retardation was observed in 112 patients with isolated methylmalonic aciduria. Conclusions The clinical manifestation of patients with isolated methylmalonic aciduria is complex,and prone to appear metabolic crisis. MUT defect is the main cause. Early metabolic investigation is very im-portant to reach diagnosis. Newborn screening,early diagnosis and adequate therapy are key points to reduce the morta-lity and handicap.
