摘要
目的探讨婴儿痉挛症(IS)患儿中不同先天性代谢异常情况,以利早期进行病因及对症治疗。方法采用气相色谱-质谱法对30例IS患儿尿标本进行氨基酸、有机酸、脂肪酸、糖、核苷酸等代谢异常筛查,并进行尿常规、肝功能、血生化、脑部影像学及脑干听、视觉诱发电位等检查。结果 30例IS患儿中,23例(76.67%)尿筛查异常,其中甲基丙二酸尿症及酮性双羧酸尿症各4例(13.33%),非酮性双羧酸尿症3例(10.00%),苯丙酮尿症、戊二酸尿症、乳酸尿症和丙酸尿症各2例(6.67%),焦谷氨酸尿症、4-羟基苯丙酮酸尿症、色氨酸尿症及乳糖和半乳糖代谢异常各1例(3.33%)。23例尿筛查异常病例均有不同程度的智力运动发育落后或倒退(100%)。其中头颅CT或MRI异常12例(52.17%),脑干诱发电位异常20例(86.96%),肝功能异常3例(13.04%),血生化异常4例(17.39%),尿常规酮体阳性(+～++)3例(13.04%)。结论先天性代谢异常是IS重要致病原因,对IS患儿应尽早进行先天性代谢异常筛查和遗传咨询,以助早期治疗及改善预后。
Objective To study the inborn errors of metabolism in infants with infantile spasms（ IS）, aiming to provide etiological treat- ment and symptomatic treatment earlier. Methods Urine samples of 30 patients with IS were collected, and then analyzed by chromatography -mass spectrometry for quantification of amino acids, organic acid, fatty acid, sugars and nucleotides. Simultaneously,urine routine, hepatic function, blood biochemistry, imageology of encephalon and brain stem evoked potential （vision and audition） were exa- mined. Results Abnormality of urine screening of 23 cases were detected with a positive rate of 76.67%, among which there were 4 （13.33%） cases of methylmalonic academia and 4 （13.33%） cases of ketotic double carboxylic aciduria respectively, 3 （10.00%） cases of nonketotic double carboxylic aciduria, 2 （6.67 % ） cases of phenylketonuria, 2 （ 6.67 % ） cases of glutaric aciduria, 2 （ 6.67% ） lactaciduria and 2 （6.67 % ） propionic aciduria respectively, 1 （ 3.33 % ） case of pyroglutamic aciduria, 1 （ 3.33 % ） case of 4 - hydroxy phenylketonuria, 1 （3.33%） case of tryptophanuria and 1 （3.33%） case of abnormality of metabolism of lactose and galactose respectively. Hypoevolutism or retrogression of intelligence and motor function were found in all 23 cases（ 100% ）, among which there were 12 cases of abnormality of encephalic computerized tomography or magnetic resonance imaging （52. 17% ）, 20 cases of abnormality of brain stem evoked potential （86.96%）, 3 cases of abnormality of hepatic function（ 13.04% ）, 4 cases of abnormality of blood biochemistry（ 17.39% ） and 3 cases of urine ketobody（ ＋ - ＋ ＋ ） （ 13.04% ）. Conclusions Inborn errors of metabolism plays an important role in the pathogenesis of IS. Screening of inborn errors of metabolism in infants with IS should be completed as earlier as possible, which will help to provide early treatment and improve prognosis.
出处
《实用儿科临床杂志》
CAS
CSCD
北大核心
2011年第24期1867-1868,1899,共3页
Journal of Applied Clinical Pediatrics
关键词
婴儿痉挛症
先天性代谢异常
筛查
infantile spasms
inborn errors of metabolism
screening
