Abstract

Bartter综合征主要临床特征为低血钾、高尿钾、代谢性碱中毒、高肾素和高醛固酮,血压正常或降低,合并高血压的Bartter综合征极为罕见。本例患者低血钾、碱中毒、高肾素、高醛固酮合并高血压,除外继发性醛固酮增多症的病因后,诊断为合并高血压的Bartter综合征。给予非甾体类抗炎药吲哚美辛,血钾恢复正常,证实了Bartter综合征的临床诊断。基因检测结果为SLC12A3杂合突变,目前尚未报道该杂合突变意义。.

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