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先天性遗传代谢病的早期诊断
引用本文:黄玉春 张春花 李茹琴 庄兰春 程宪 郭惟. 先天性遗传代谢病的早期诊断[J]. 新生儿科杂志, 2005, 20(3): 101-103
作者姓名:黄玉春 张春花 李茹琴 庄兰春 程宪 郭惟
作者单位:[1]大连市儿童医院新生儿科,116012 [2]日本金泽医科大学生命科学研究所 [3]北京中日友好临床医学研究所
摘    要:目的提高儿科医生对新生儿期遗传代谢病的认识,做到早期诊断、早期治疗。方法自2003年9月至2004年9月,根据临床表现确定18名遗传代谢病高危患儿,用“滤纸片代”将采集的尿标本外寄进行气相色谱.质谱(GC/MS)分析,筛查遗传代谢病。结果18例高危儿中确诊为遗传代谢病5例,分别为戊二酸尿症Ⅱ型1例(46h,男),鸟氨酸氨甲酰转移酶缺陷1例(66h,男),枫糖尿病1例(8d,男),甲基丙二酸血症1例(13d,男),丙酸血症1例(21d,女),并对其临床特点进行归纳总结。结论掌握新生儿遗传代谢病临床特点,对高危儿早期进行尿GC/MS分析,可以早期诊断遗传代谢病,有利于优生优育。

关 键 词:遗传代谢病 早期诊断 先天性 气相色谱.质谱 甲基丙二酸血症 GC/MS分析 鸟氨酸氨甲酰 临床特点 2004年 2003年 新生儿期 儿科医生 早期治疗 临床表现 枫糖尿病 丙酸血症 归纳总结 优生优育 高危儿 尿标本 滤纸片 酶缺陷

Early diagnosis of inborn errors of metabolism in neonatal Period
HUANG Yu-chun,ZHANG Chun-hua,LI Ru-qin,ZHUANG Lan-chun,CHENG Xian,GUO Wei. Early diagnosis of inborn errors of metabolism in neonatal Period[J]. The Journal of Neonatology, 2005, 20(3): 101-103
Authors:HUANG Yu-chun  ZHANG Chun-hua  LI Ru-qin  ZHUANG Lan-chun  CHENG Xian  GUO Wei
Affiliation:HUANG Yu-chun,ZHANG Chun-hua,LI Ru-qin,ZHUANG Lan-chun,CHENG Xian,GUO Wei. Department of Neonatology,Dalian Children's Hospital,Dalian 116012,China
Abstract:Objective To improve pediatricians' knowledge of inborn errors of metabolism in neonatal period. Make the diagnosis and treatment as early as possible. Methods Eighteen newborn babies admitted to our hospital were suspected of inborn errors of metabolism according to their clinical features. Their urine samples were collected with filter paper set, then mailed to the lab for GC/MS analysis. Results five out of 18 were confirmed to be inborn errors of metabolism. They were omithine carbamoyltransferase deficiency(OCTD) (66 h, male), glutaricacidemia II (46 h, male), maple syrup urine disease(8 d, male), methylmalonic acidemia(13 d, male), propionic acidemia(21d, female). Their clinical features were also summarized. Conclusion Alert to clinical features and to do screening with GC/MS analysis will benefit for early diagnosis and treatment of inborn errors of metabolism.
Keywords:Inborn errors of metabolism  Diagnosis  Infant   newborn  GC/MS
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