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 study reports a female neonate with a gestational age of 29+2 weeks and a birth weight of 1 210 g. Ten minutes after birth, the neonate was admitted to the hospital due to shortness of breath. Several days after birth, the neonate presented with hyperglycemia, polyuria, and poor weight gain, accompanied by azotemia, hypochloremic metabolic alkalosis, hypokalemia, and hyponatremia. Laboratory examinations showed elevated levels of aldosterone, renin, and angiotensin Ⅱ. Gene detection revealed SLC12A1 gene mutation. Neonatal Bartter syndrome was thus confrmed. The neonate was treated with sodium and potassium supplements, and was followed up for 8 months. During the follow-up, the mental and neural development of the neonate was almost normal at the corrected age, and regular reexaminations showed slight metabolic alkalosis and almost normal electrolyte levels. For the neonates who have the symptoms of unexplainable polyurine and electrolyte disorders, it is important to examine the levels of aldosterone, renin and angiotensin. A defnite diagnosis of neonatal Bartter syndrome can be made based on the presence of SLC12A1 gene mutation.
关键词
巴特综合征 /
体重不增 /
低氯性代谢性碱中毒 /
低钾血症 /
新生儿
Key words
Batter syndrome /
Poor weight gain /
Hypochloremic metabolic alkalosis /
Hypokalemia /
Neonate
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参考文献
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