摘要
目的探讨晚发型戊二酸尿症Ⅱ型的临床特征、诊断和治疗。方法收集2例经气相色谱-质谱分析技术确诊的晚发型戊二酸尿症Ⅱ型病例的临床资料,结合相关文献回顾性分析其临床表现、病理、生化特点、诊断、治疗及预后。结果2例晚发型戊二酸尿症Ⅱ型患者临床以进展性或波动性近端型肌无力、运动不耐受和肌肉疼痛为主要表现,应激状态下症状迅速恶化,伴随呕吐及代谢改变,血清肌酸激酶、转氨酶明显升高。尿有机酸分析检出大量戊二酸、乙基丙二酸、己二酸等二羧酸。其中1例患者行肌肉活检表现为肌纤维脂质沉积性改变。经饮食控制和维生素B2、左旋肉碱治疗后,2例患者临床症状均明显改善。结论对于临床上进展性或波动性近端型肌病迅速恶化,尤其是应激引发的伴随呕吐及代谢改变患者,应高度怀疑戊二酸尿症Ⅱ型。早期诊断、合理治疗是改善预后的关键。
Aim To analyze the clinical characteristics in patients with Late-onset glutaric aciduria type Ⅱ （GA Ⅱ）.Methods Clinical material of the two patients with late-onset glutaric aciduria type Ⅱ and associated literature were analyzed retrospectively.Results Both patients were chronic onset and presented with proximal muscle weakness,accompanied by intolerance to exercise.Pain involved in partial muscle was found.The symptoms can be triggered by physical stress and accompanied by vomiting and metabolic changes.A marked increase of creatine kinase and transaminase in serum was detected.Organic acid analysis on both untreated cases revealed massive glutaric acid with elevated concentration of ethylmalonic acid,hexanedioic acid.Muscle biopsy study （case 2） showed markedly increased lipid droplets in muscle fibers.Both patients had a dramatic response to riboflavin and carnitine treatment.Conclusion The association ofmyopathy with acute exacerbations,especially if triggered by physical stress and accompanied by vomiting and metabolic changes,should raise suspicion of GA Ⅱ.Early diagnosis and adequate therapy could contribute a lot to improving the prognosis of the patient.
出处
《中国临床神经科学》
2014年第3期269-275,共7页
Chinese Journal of Clinical Neurosciences
关键词
戊二酸尿症
脂质沉积
肌病
维生素B2
glutaric aciduria type Ⅱ
lipoidosis
muscular diseases
vitamin B2
