【摘要】：患兒,女,出生胎齡29~(+2)周、體重1 210 g,因氣促于生后10 min入院。入院后出現(xiàn)高血糖、多尿、體重不增等表現(xiàn),伴有氮質(zhì)血癥,低氯性代謝性堿中毒,低鉀、低鈉血癥,以及醛固酮、腎素、血管緊張素Ⅱ均升高,SLC12A1基因突變,確診為新生兒巴特綜合征。予補(bǔ)鈉、補(bǔ)鉀對癥治療,隨訪至生后8個月,神經(jīng)、精神發(fā)育水平與糾正月齡基本相符,仍有輕度代謝性堿中毒,電解質(zhì)基本正常。對于新生兒難以解釋的多尿、電解質(zhì)紊亂,應(yīng)注意檢測醛固酮、腎素、血管緊張素及基因篩查,發(fā)現(xiàn)SLC12A1基因突變可確診。
[Abstract]:The child, female, was 29 ~ (2) weeks old and weighed 1 210 g. She was admitted to hospital 10 min after birth due to shortness of breath. After admission, hyperglycemia, polyuria, no weight gain were found, accompanied by azotemia, hypochloric metabolic alkalosis, hypokalemia, hyponatremia, aldosterone, renin, angiotensin 鈪，

本文編號：2295682