分析1例假性醛固酮减少症Ⅱ型患儿的临床特点及基因突变结果。患儿为11岁女童,发现身材矮小10年,无其他阳性症状及体征,血压监测提示高血压。实验室检查显示高钾血症、高氯血症、代谢性酸中毒,血浆肾素活性卧位0.0 ng/ml(参考值0.1～0.8 ng/ml),立位0.2 ng/ml(参考值0.9～6.6 ng/ml),肌酐清除率未见异常。基因检测发现患儿及其母亲丝氨酸/苏氨酸蛋白激酶中WNK4基因杂合突变,位点为c.1682C>T(p.P561L),确诊为假性醛固酮减少症Ⅱ型
关键词
假性醛固酮减少症Ⅱ型 /
身材矮小 /
高血钾 /
WNK4 /
基因突变
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参考文献
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