有机酸尿症71例临床分析_杨艳玲

·论著·

有机酸尿症71例临床分析

杨艳玲1■,山口清次2,田上泰子3,张月华1,姜玉武1,包新华1,吴　晔1,秦　炯1,李　明1,钱　宁1,吴希如1,付晓巍2,木村正彦2,花井润师3,福士胜3,戚　豫4

(1.北京大学第一医院儿科,北京　100034;2.日本岛根医科大学小儿科,3.日本札幌市卫生研究所;4.北京大学第一医院中心实验室)

[关键词]有机酸尿症;酸类/尿;神经系统疾病/尿;气相色谱/质谱联用分析[摘　要]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1372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 -M S )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(5.17%)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13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,49例(69.0%)合并惊厥,38例(53.5%)曾有代谢性酸中毒,10例(14.1%)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,47例(66.2%)有不同程度改善,其中12例(16.9%)患儿智力发育正常。13例(18.3%)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。对于原因不明的智力运动障碍、惊厥、代谢异常等患儿应及早进行筛查。GC /M S 尿有机酸分析是有机酸尿症筛查与诊断的可靠方法。

[中图分类号]R725.8 [文献标识码]A [文章编号]1671-167X (2002)03-0214-05

C linical survey of 71patients with organic acidurias

YANG Yan -Ling 1■,YA MAG U CHI Seji 2,T AGA M I Yasuko 3,Z HA NG Yue -Hua 1,JIA NG Yu -Wu 1,BA O Xin -Hua 1,WU Ye 1,Q IN Jiong 1,LI M ing 1,Q IAN N ing 1,WU Xi -Ru 1,F U Xiao -Wei 1,K IM U RA M asahiko 2,HANA YI Jun 3,F U K USHI M ino ru 4,Q I Yu 4

(1.Department of Pedia trics ,Peking U niversity First Hospital ,Beijing 100034,China ;2.Department of Pediatrics ,Shi -mane M edical U niversity ,Japan ;3.Sappo ro Health Institute ,Japan ;4.Central Labora tory ,P eking University First Hos -pital )

KEY W ORDS Org anic

aciduria ;Acids /urine ;Nervous system diseases /urine ;Gas chromatography /m ass

spectrometry ,GC /MS .SUMMARY Objective :To investigate the incidences ,clinical features ,diag nosis and treatment of or -g anic acidurias in children w ith hig h risk to mental retardation and other neurological defects .Meth -ods :In the past 4years ,1372patients w ith mental retardation ,seizures ,motor deficit ,vomiting ,g row th diso rders ,metabolic acidosis o r 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 follow ed .Results :71patients (5.17%)aged from 5days to 18years w ith o rganic acidurias w ere confirmed .Among them ,32had methy lmalonic aciduria ,13propionic aciduria ,5biotinidase deficiency ,4glutaric aciduria type Ⅱ,4hyperox alic

基金项目:卫生部临床学科重点项目(2001-03)资助Supported by the Key Clinical Project (2001-03)from the M inistry of Publ ic Health

■Corresponding author email ,yanlingy @s ina .com

·

214·JOURNAL OF PEKING UNIVERS ITY (HEALTH SCIENCES )　Vol .34　No .3　Jun .2002