有机酸尿症71例临床分析

Clinical survey of 71 patients with organic acidurias

目的 :探讨智力低下、癫等神经系统疾病患儿中有机酸尿症的发病情况、临床特点、诊断与治疗方法。方法 :4年来以 1 372例原因不明的智力低下、惊厥、运动障碍、呕吐、代谢性酸中毒、意识障碍等患儿为对象 ,通过气相色谱 质谱联用 (GC MS)尿有机酸分析等方法逐级进行筛查与诊断 ,根据病种分别给予治疗 ,长期随访。结果 :71例 ( 5.1 7% )有机酸尿症患儿得以确诊。其中甲基丙二酸尿症 32例 ,丙酸尿症 1 3例 ,生物素基酶缺乏症 5例 ,戊二酸尿症Ⅱ型 4例 ,高草酸尿症 4例 ,氧合脯氨酸尿症 3例 ,全羧酶合成酶缺乏症 2例 ,甲基巴豆酰辅酶A羧化酶缺乏症、戊二酸尿症Ⅰ型、枫糖尿症、酮硫酶缺乏症、异戊酸尿症、黑酸尿症、肉碱棕榈酰转移酶缺陷Ⅱ型、甘油酸尿症各 1例。病史调查显示 58例 ( 81 .7% )患儿合并智力损害 ,4 9例 ( 6 9.0 % )合并惊厥 ,38例 ( 53.5% )曾有代谢性酸中毒 ,1 0例 ( 1 4 .1 % )曾有猝死样发作史。确诊后 55例 ( 77.5% )接受相应饮食、药物与康复治疗 ,4 7例( 6 6 .2 % )有不同程度改善 ,其中 1 2例 ( 1 6 .9% )患儿智力发育正常。 1 3例 ( 1 8.3% )患儿死亡 ,其中 9例为死亡后诊断。结论 :有机酸尿症临床表现复杂 ,多导致严重神经系统损害 ,早期诊断、早期治疗是改善预后的关键。对于?

SUMMARY Objective:To investigate the incidences, clinical features, diagnosis and treatment of organic acidurias in children with high risk to mental retardation and other neurological defects.Methods:In the past 4 years, 1 372 patients with mental retardation, seizures, motor deficit, vomiting, growth disorders, metabolic acidosis or lethargy, were screened by urine organic acid analysis (gas chromatography mass spectrometry, GC MS). Some patients were confirmed by enzyme assay. After diagnosis, they were treated by diet individually and followed. Results:71 patients (5.17%) aged from 5 days to 18 years with organic acidurias were confirmed. Among them, 32 had methylmalonic aciduria, 13 propionic aciduria, 5 biotinidase deficiency, 4 glutaric aciduria type Ⅱ, 4 hyperoxalicaciduria, 3 oxoprolinemia, and 2 holocarboxylase deficiency, 1 patient with glutaric aciduria type Ⅰ, 1 methylcrotonyl CoA carboxylase deficiency, 1 maple syrup urine disease, 1 ketothiolase deficiency, 1 isovaleric aciduria, 1 alcaptonuria, 1 carnitine palmitoyl transferase deficiency typeⅡ,and 1 glyceric aciduria, respectively. Among the above 71 patients, mental retardation, seizures, metabolic acidosis, vomiting, and SIDS like strike were found in 58 (81.7%), 49 (69.0%), 38 (53.5%), 48(67.6%) and 10 (14.1%) patients respectively.We treated 55 (77.5%) patients with diet, medicine and rehabilitation. Clinical improvement was observed in 47 (66.2%) patients and 12 (16.9%) showed normal mental development. But 13 (18.3%) died.Conclusion:Most of organic acidurias impair the nervous system seriously. Early diagnosis and adequate treatment contribute a lot to improve the neurological prognosis of the patients, and screening is critical. GC/MS is a very useful method for the screening and diagnosis of organic acidurias.