多种酰基辅酶A脱氢酶缺乏症儿童与成人患者临床特点比较

Clinical and biochemical characteristics in children and adults with multiple acyl-CoA dehydrogenase deficiency

目的比较儿童和成人多种酰基辅酶A脱氢酶缺乏症(MADD)患者的临床和实验室检查特点。方法对12例儿童和19例成人MADD患者进行常规实验室检查、血酰基肉碱谱及尿有机酸分析。对中国人电子转运黄素蛋白脱氢酶(ETFDH)基因常见突变A84T通过DNA测序方法进行筛检。结果儿童MADD患者临床表现高度异质,可表现为肌无力、肝大、低酮性低血糖、肥厚性心肌病或脑发育不良及脱髓鞘病变;而成人患者均以肌无力起病。成人和儿童MADD有肝酶和CK升高,血多种酰基肉碱升高,多数伴有二羧酸尿。儿童组3例死亡,成人组全部存活。存活患者的症状和生化指标治疗后好转或正常。A84T突变在儿童和成人患者的发生率分别为20.8%(5/24)和21%(8/38)。结论儿童与成人MADD患者的临床表现和预后存在差异,成人患者预后好;A84T突变可能与轻型相关。[临床儿科杂志,2012,30(5):446-449]

Objective To compare the clinical and biochemical characteristics of children and adults with multiple acyl-CoA dehydrogenase deficiency（MADD）.Methods Twelve children and 19 adults with MADD were included in the study.The routine laboratory examination,blood acylcarnitine profile and urine organic acids were measured.The mutation A84T in electron transfer flavoprotein dehydrogenase（ETFDH） gene was tested.Results The clinical features of children MADD showed high heterogeneity and the onset symptoms including muscle weakness,hepatomegaly,hypoketotic hypoglycemia,hypertrophic cardiomyopathy,and central nervous system abnormalities such as hypoplasia and demyelination,while the adult patients only developed symptoms of muscular weakness.Elevations of transaminases,CK and multiple blood acylcarnitine species were observed in all patients and dicarboxylic aciduria are common in most patients.Three of child patients died and all adult patients survived.After treatment,the symptoms and biochemical characteristics of patients were ameliorated or normalized.The incidences of mutation A84T in child and adult patients were 20.8%（5 / 24） and 21%（8 / 38） respectively.Conclusions The clinical features and prognosis are different between children and adults MADD.The prognosis in adult patients is better than in children.The mutation A84T may be correlated to mild type of MADD.