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目的甲基丙二酸尿症合并同型半胱氨酸血症是甲基丙二酸尿症中的特殊类型,对5例患儿进行回顾性分析,研究本症的临床表现、生化特点、诊断与治疗方法。方法应用气相色谱-质谱联用分析法(gaschro-matography_massspectrometry,GC-MS)进行尿有机酸分析,采用荧光偏振免疫测定法检测血浆同型半胱氨酸。确诊后给予钴胺素、左旋肉碱、甜菜碱等药物治疗,予以长期随访。结果5例患儿(男2例,女3例)起病年龄3个月~13岁。4例表现为进行性智力运动障碍伴蛋白尿、血尿,1例因肌肉酸痛就诊,伴抽搐2例,伴周围神经损害2例,肝功异常2例。5例患儿尿甲基丙二酸为29.4~805.9mg/g肌酐(正常对照为0.2~3.6mg/g肌酐),血浆中同型半胱氨酸42.5~215.22μmol/L(正常对照5~15μmol/L),均明显增高,血浆游离肉碱浓度下降。经维生素B12、左旋肉碱治疗后,患儿尿甲基丙二酸浓度明显下降,经甜菜碱治疗后血浆同型半胱氨酸逐渐降低。结论甲基丙二酸尿症并同型半胱氨酸血症可导致多系统损害,临床表现多样;早期诊断、早期治疗是改善预后的关键;对不明原因的脑病、周围神经病、肾损害等多脏器损害患者,应尽早进行尿有机酸分析等特殊检查,对于甲基丙二酸尿症患者应进行血浆同型半胱氨酸测定。
Objective Methylmalonic aciduria with homocysteinemia is a special type of methylmalonic aciduria, and 5 cases of children were retrospectively analyzed to study the clinical manifestations, biochemical features, diagnosis And treatment. Methods Urinary organic acids were analyzed by gaschro-matography-mass spectrometry (GC-MS), and plasma homocysteine was detected by fluorescence polarization immunoassay. After the diagnosis given cobalamin, L-carnitine, betaine and other drugs, to be long-term follow-up. Results 5 cases of children (2 males and 3 females) onset age of 3 months to 13 years. 4 cases showed progressive mental dyskinesia with proteinuria, hematuria, 1 case was treated with muscle soreness, 2 cases with convulsions, 2 cases with peripheral nerve damage and 2 cases with abnormal liver function. Urinary methylmalonic acid was 29.4 ~ 805.9mg / g creatinine (normal control was 0.2 ~ 3.6mg / g creatinine), plasma homocysteine was 42.5 ~ 215.22μmol / L (normal control 5 ~ 15μmol / L), were significantly higher plasma concentration of free carnitine decreased. After vitamin B12, L-carnitine treatment, urinary methylmalonic acid concentration decreased significantly, after treatment with betaine plasma homocysteine decreased. Conclusions Methylmalonic aciduria and homocysteinemia can cause multiple system damage and have various clinical manifestations. Early diagnosis and early treatment are the keys to improve prognosis. For unexplained encephalopathy, peripheral neuropathy and renal damage, etc. Patients with organ damage should be as early as possible urine organic acid analysis and other special tests for patients with methylmalonic acid urine plasma homocysteine should be measured.