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目的探讨串联质谱技术(MS/MS)在脑发育落后病因诊断及疗效判断中的意义。方法应用串联质谱仪,对158例脑发育落后患儿进行血氨基酸谱和酰基肉碱谱定量检测,对检出的11例代谢性疾病患儿 MS/MS 结果、尿气相色谱/质谱检测(GC/MS)结果、临床表现及治疗后变化进行综合分析。结果 158例中,11例(7.0%)患儿确诊为遗传代谢性疾病,其中甲基丙二酸血症5例,丙酸血症2例,鸟氨酸氨甲酰转移酶缺乏症1例,枫糖尿病1例,苯丙酮尿症1例,生物素酶缺乏症1例。临床表现为智能及运动发育落后或倒退(11例)、惊厥(5例)、昏迷(4例)、呕吐(4例)、营养不良(4例)、嗜睡(3例)、反复感染(3例)、肌张力降低(2例)等。实验室检查显示代谢性酸中毒、血氨及血乳酸增高、贫血等。MRI 表现为脑萎缩、双侧脑白质 T_2W 高信号或伴 T_1W 低信号、多发性脑软化或囊样变等。起病早、伴严重酸中毒及昏迷的甲基丙二酸血症预后较差。患儿经维生素 B_(12)、左旋肉碱、特殊奶方、低蛋白饮食及生物素等治疗后,好转8例,死亡3例。结论串联质谱技术有助于脑发育落后的病因诊断及疗效判断。早期诊断及合理治疗可避免脑组织进一步损害,并改善预后。
Objective To explore the significance of tandem mass spectrometry (MS / MS) in the etiological diagnosis and therapeutic evaluation of brain development. Methods Serum amino acid and acylcarnitine were detected by tandem mass spectrometry (MS / MS) in 158 children with cerebral degeneration. The results of MS / MS, urine gas chromatography / mass spectrometry (GC / MS) / MS) results, clinical manifestations and post-treatment changes were analyzed. Results Of the 158 patients, 11 (7.0%) children were diagnosed as inherited metabolic diseases, including 5 cases of methylmalonic acidmia, 2 cases of propionic acidemia, 1 case of ornithine carbamoyltransferase deficiency 1 case of maple diabetes mellitus, 1 case of phenylketonuria and 1 case of biotinase deficiency. The clinical manifestations were backward and backward intelligence (11 cases), convulsions (5 cases), coma (4 cases), vomiting (4 cases), malnutrition (4 cases), lethargy (3 cases), recurrent infection Cases), muscle tension decreased (2 cases) and so on. Laboratory tests showed metabolic acidosis, increased blood ammonia and blood lactate, anemia and so on. MRI showed cerebral atrophy, bilateral white matter T_2W high signal or with T_1W low signal, multiple brain softening or cystoid changes. Early onset, with severe acidosis and coma methylmalonic acid poor prognosis. Children with vitamin B_ (12), L-carnitine, special milk, low protein diet and biotin and other treatment, improved in 8 cases, 3 patients died. Conclusions Tandem mass spectrometry is helpful for the etiological diagnosis and therapeutic evaluation of brain development. Early diagnosis and reasonable treatment can prevent further damage to brain tissue and improve prognosis.