本文選題：甲硫氨酸血癥 + 新生兒疾病篩查��； 參考：《中國當(dāng)代兒科雜志》2017年09期

【摘要】：正患兒,女,漢族,12 d,系第1胎第1產(chǎn)。因新生兒疾病篩查異常提示高甲硫氨酸血癥入院�；純河谔g40~(+3)周剖宮產(chǎn)出生,出生體重4 580 g,身長52 cm,1分鐘和5分鐘Apgar評分均為9分,出生情況無異常。其母26歲,孕期各項(xiàng)檢查均未發(fā)現(xiàn)異常�；純撼錾�3 d后家屬自愿接受新生兒疾病篩查以排除29種遺傳代謝疾病,初步篩查結(jié)果異常。遂將患兒召回行進(jìn)一步檢查。入院體格檢查:患兒吃奶好,無青紫、氣促,
[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,
【作者單位】： 常州市婦幼保健院;江蘇大學(xué)醫(yī)學(xué)院;
【基金】：常州市高層次衛(wèi)生人才培養(yǎng)工程資助(2016CZLJ013)
【分類號(hào)】：R722.1
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本文編號(hào)：2038221