新生儿体重不增、反复代谢性碱中毒、低钾血症

发布时间：2018-10-26 12:14

【摘要】：患儿,女,出生胎龄29~(+2)周、体重1 210 g,因气促于生后10 min入院。入院后出现高血糖、多尿、体重不增等表现,伴有氮质血症,低氯性代谢性碱中毒,低钾、低钠血症,以及醛固酮、肾素、血管紧张素Ⅱ均升高,SLC12A1基因突变,确诊为新生儿巴特综合征。予补钠、补钾对症治疗,随访至生后8个月,神经、精神发育水平与纠正月龄基本相符,仍有轻度代谢性碱中毒,电解质基本正常。对于新生儿难以解释的多尿、电解质紊乱,应注意检测醛固酮、肾素、血管紧张素及基因筛查,发现SLC12A1基因突变可确诊。
[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，

本文编号：2295682