CAJ | 학술논문

目的探讨单纯型甲基丙二酸血症患者临床和遗传特点及治疗效果.方法对40例单纯型甲基丙二酸血症患者临床和遗传学特点、诊治及转归进行分析.治疗方法包括限制天然蛋白质摄入量,补充特殊奶粉、左旋肉碱及维生素B12.随访内容包括发育情况、血丙酰肉碱及尿甲基丙二酸水平.结果 40例确诊患者中,33例患者接受MUT基因分析,30例检出突变,占90.9％；随访30例,随访时间1个月至8年,死亡8例,存活22例中8例智力正常(其中4例来自新生儿筛查者治疗前后均无临床症状),14例遗留不同程度运动、语言发育迟缓及智力低下.治疗后患者血丙酰肉碱、丙酰肉碱:乙酰肉碱比值、尿甲基丙二酸及甲基枸橼酸水平中位数分别由24.15 μmol/L、1.08、705.34和7.71降至10.50μmol/L、0.63、166.23及3.96,差异有统计学意义(均P＜0,05).结论单纯型甲基丙二酸血症患者预后与患病类型、发病年龄及对维生素B12治疗的反应性等因素有关,新生儿期发病、维生素B12治疗无效者预后差.
목적 탐토단순형갑기병이산혈증환자림상화유전특점급치료효과.방법 대40례단순형갑기병이산혈증환자림상화유전학특점、진치급전귀진행분석.치료방법포괄한제천연단백질섭입량,보충특수내분、좌선육감급유생소B12.수방내용포괄발육정황、혈병선육감급뇨갑기병이산수평.결과 40례학진환자중,33례환자접수MUT기인분석,30례검출돌변,점90.9％；수방30례,수방시간1개월지8년,사망8례,존활22례중8례지력정상(기중4례래자신생인사사자치료전후균무림상증상),14례유류불동정도운동、어언발육지완급지력저하.치료후환자혈병선육감、병선육감:을선육감비치、뇨갑기병이산급갑기구연산수평중위수분별유24.15 μmol/L、1.08、705.34화7.71강지10.50μmol/L、0.63、166.23급3.96,차이유통계학의의(균P＜0,05).결론 단순형갑기병이산혈증환자예후여환병류형、발병년령급대유생소B12치료적반응성등인소유관,신생인기발병、유생소B12치료무효자예후차.
Objective To explore the clinical feature,therapeutic effect and prognosis of isolated methylmalonic acidemia.Methods The clinical characteristics,laboratory findings,treatment and outcome of 40 patients were restrospectively analyzed.The main treatment was a low-protein diet supplemented with L-carnitine and special milk free of leucine,valine,threonine and methionine.Vitamin B12 was also given to cobalamin responders.The patients were followed up every 1-3 months.Results Mutations in the MUT gene were identified in 30 of 33 patients who had accepted detection of DNA sequencing.Thirty cases were treated and followed up regularly for 1 month to 8 years.Eight cases had died,8 had developed normal intelligence,of which 4 from newborn screening were asymptomatic.Psychomotor developmental delay and mental retardation were present in 14 cases.The propionylcarnitine level,ratio of propionylcarnitine/acetylcarnitine in blood,methylmalonic acid and methylcitric acid levels in urine have decreased significantly,with the median values respectively reduced from 24.15(7.92-81.02) μmol/L,1.08(0.38-6.01),705.34 (113.79-3078.60) and 7.71(0.52-128.21) to 10.50(3.00 30.92) μmol/L,0.63(0.25-2.89),166.23 (22.40-3322.21) and 3.96(0.94-119.13)(P＜0.05).Conclusion The prognosis of isolated methylmalonic acidemia may be predicted with the enzymatic subgroup,age at onset and cobalamin responsiveness.Outcome is unfavorable in neonatal patients and those who were non-responsive to cobalamin.