小儿利德尔综合征继发性高血压3例报告。

Clinical Nephrology. Case Studies Pub Date : 2020-05-29 eCollection Date: 2020-01-01 DOI:10.5414/CNCS109972
Zheyi Teoh, Siddharth Shah
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引用次数: 3

摘要

背景:Liddle综合征是早发性高血压的单基因原因,与低钾血症和代谢性碱中毒有关,以常染色体显性遗传,外显率可变。病例介绍:我们报告了在一家三级儿童医院就诊的三名患有不同严重程度的高血压和电解质紊乱的儿童的病例报告,由于高血压家族史,他们进行了基因检测。随后,他们都被发现具有与Liddle综合征一致的SCNN1B基因突变,并开始使用上皮钠通道抑制剂,血压有所改善。结论:由于其不同的外显率,Liddle综合征可有不同程度的血压和电解质紊乱。及时识别Liddle综合征对于预防未控制的高血压引起的心血管并发症非常重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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A case report of three children with secondary hypertension caused by Liddle syndrome.

Background: Liddle syndrome is a monogenetic cause of early-onset hypertension that is associated with hypokalemia and metabolic alkalosis that is inherited in an autosomal dominant fashion with variable penetrance.

Case presentation: We present a case report of three children seen at a tertiary children's hospital with varying severity of hypertension and electrolyte disturbances, who had genetic testing performed due to strong family history of hypertension. They were each subsequently found with the same genetic mutation of SCNN1B consistent with Liddle syndrome and started on epithelial sodium channel inhibitors with improvement in their blood pressure.

Conclusion: Due to its variable penetrance, Liddle syndrome can have varying severity of blood pressure and electrolyte disturbances. Prompt recognition of Liddle syndrome is important to prevent cardiovascular complications from uncontrolled hypertension.

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