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发育迟缓的罕见病例:III型巴特综合征。

Unusual case of failure to thrive: Type III Bartter syndrome.

作者信息

Agrawal S, Subedi K, Ray P, Rayamajhi A

机构信息

Department of Pediatrics, National Academy of Medical Sciences, Kanti Children's Hospital, Mahargunj, Kathmandu, Nepal.

出版信息

J Nepal Health Res Counc. 2016 Sep;14(34):210-213.

Abstract

Bartter syndrome Type III is a rare autosomal recessive disorder resulting from an inherited defect in the thick ascending limb of the loop of henle of the nephrons in kidney. The typical clinical manifestations in childhood are failure to thrive and recurrent episodes of vomiting. Typical laboratory findings which help in the diagnosis are hypokalemic metabolic alkalosis, hypomagnesemia and hypercalciuria. We report a case of Type III Bartter syndrome not responding to repeated conventional treatment of failure to thrive.

摘要

Ⅲ型巴特综合征是一种罕见的常染色体隐性疾病,由肾脏肾单位髓袢升支粗段的遗传性缺陷引起。儿童期的典型临床表现为生长发育迟缓及反复呕吐发作。有助于诊断的典型实验室检查结果为低钾血症性代谢性碱中毒、低镁血症和高钙尿症。我们报告一例Ⅲ型巴特综合征患者,其对反复的常规生长发育迟缓治疗无反应。

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