摘要
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( gas chromatography-mass spectrometry, 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～ 805.9 mg/g肌酐(正常对照为 0.2～ 3.6 mg/g肌酐),血浆中同型半胱氨酸 42.5～ 215.22 μ mol/L(正常对照 5～ 15 μ mol/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 To explore the clinical and biochemical features of 5 patients with methylmalonic aciduria and homocystinemia. Methods Urinary organic acids profile was analyzed using the gas chromatograph-mass spectrometer（GC/MS）. Serum homocysteine was determined in all 5 patients. One of the patients accepted muscle biopsy and another one accepted peripheral nerve biopsy. All their clinical features, laboratory findings,radiological manifestations,treatment methods and outcomes were reviewed. Results 5 patients（2 boys and 3 girls）developed multiple organ dysfunctions at the age of 3 months to 13 years. There were 4 patients with progressive mental and movement degeneration.One girl had muscle pain.Convulsion occurred in 2 patients. 4 patients were manifested as hematuria and proteinuria. Peripheral neuropathy was found in 2 patients. 2 patients had liver dysfunction. Remarkable elevated urinary methylmalonic acid（29.4～805.9 mg/g creatinine, normal control 0.2～3.6 mg/g creatinine） and plasma homocysteine（42. 5～215. 22μmol/ L, normal control 5～15～mol/ L） were found in all 5 patients.After vitamin B12, folic acid and L-carnitine betaine supplementation, significant improvement was observed. With betaine treatment, plasma homocysteine decreased gradually. Conclusions Patients with methylmalonic acidemia and homocystinemia often have multiple organs dysfunction. Early diagnosis and treatment is the key point to improve the prognosis. Special detections such as urinary organic acid analysis should be performed in patients with multiple organs dysfunction. Serum homocysteine should be measured in the patients with methylmalonic aciduria.
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2005年第8期523-526,共4页
Journal of Clinical Pediatrics
基金
卫生部医疗机构临床学科重点项目(编号:2001-0912)
