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首页> 外文期刊>International Journal of General Medicine >An infant with poor weight gain and hypochloremic metabolic alkalosis: a case report
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An infant with poor weight gain and hypochloremic metabolic alkalosis: a case report

机译：体重增加不良和低氯性代谢性碱中毒的婴儿：病例报告

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Abstract: Bartter syndrome is an autosomal recessive disease manifested by a defect in chloride transport in the thick loop of Henle, with different genetic origins and molecular pathophysiology. Children with Bartter syndrome generally present in early infancy with persistent polyuria and associated dehydration, electrolyte imbalance, and failure to thrive. Although early diagnosis and appropriate treatment of Bartter syndrome may improve the outcome, some children will progress to renal failure. We report a case of an 8-week-old infant who was admitted for electrolyte imbalance and failure to thrive. Laboratory studies revealed hypochloremic metabolic alkalosis with severe hypokalemia. Health care providers should consider Bartter syndrome when excessive chloride losses appear to be renal in origin and the patient has normal blood pressure and high levels of serum renin and aldosterone. Treatments, including indomethacin, spironolactone, and aggressive fluid and electrolyte replacement, may prevent renal failure in children with Bartter syndrome. Molecular genetics studies are indicated to identify the primary genetic defect.
机译：摘要：巴特综合征是一种常染色体隐性遗传疾病，表现为亨利厚环中氯化物转运缺陷，具有不同的遗传起源和分子病理生理学。患有Bartter综合征的儿童通常在婴儿早期出现持续性多尿症并伴有脱水，电解质失衡和，壮成长。尽管早期诊断和适当治疗Bartter综合征可能会改善结局，但一些儿童仍会发展为肾功能衰竭。我们报告了一个8周大婴儿的案例，该婴儿因电解质失衡和failure壮而入院。实验室研究发现低血钾代谢性碱中毒伴严重低血钾。当氯化物过多流失似乎起源于肾脏并且患者血压正常且血清肾素和醛固酮水平高时，医疗保健提供者应考虑Bartter综合征。包括吲哚美辛，螺内酯在内的治疗以及积极的体液和电解质替代治疗可预防Bartter综合征儿童的肾衰竭。分子遗传学研究表明可以识别主要的遗传缺陷。

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