1例高甲硫氨酸血症基因突变分析

发布时间：2018-06-19 03:33

  本文选题：甲硫氨酸血症 + 新生儿疾病筛查　； 参考：《中国当代儿科杂志》2017年09期

【摘要】：正患儿,女,汉族,12 d,系第1胎第1产。因新生儿疾病筛查异常提示高甲硫氨酸血症入院。患儿于胎龄40~(+3)周剖宫产出生,出生体重4 580 g,身长52 cm,1分钟和5分钟Apgar评分均为9分,出生情况无异常。其母26岁,孕期各项检查均未发现异常。患儿出生3 d后家属自愿接受新生儿疾病筛查以排除29种遗传代谢疾病,初步筛查结果异常。遂将患儿召回行进一步检查。入院体格检查:患儿吃奶好,无青紫、气促,
[Abstract]:Children, female, Han nationality, 12 days, is the first birth. The abnormal screening of neonatal diseases suggested that hypermethionine was admitted to hospital. The children were born by cesarean section at 40 (3) weeks of gestational age. The birth weight was 4 580g, the body length was 52 cm / min and the Apgar score was 9 for 1 minute and 5 min respectively, and the birth condition was not abnormal. Her mother was 26 years old, and no abnormality was found in all examinations during pregnancy. At 3 days after birth, their families voluntarily accepted neonatal disease screening to exclude 29 genetic metabolic diseases, and the preliminary screening results were abnormal. The child was recalled for further examination. Admission physical examination: the baby has good milk, no blue, shortness of breath,
【作者单位】： 常州市妇幼保健院;江苏大学医学院;
【基金】：常州市高层次卫生人才培养工程资助(2016CZLJ013)
【分类号】：R722.1
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本文编号：2038221