Teoh Zheyi, Shah Siddharth
Department of Pediatrics, University of Louisville, Louisville, KY, USA.
Clin Nephrol Case Stud. 2020 May 29;8:37-40. doi: 10.5414/CNCS109972. eCollection 2020.
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.
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.
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.
利德尔综合征是早发性高血压的单基因病因，与低钾血症和代谢性碱中毒相关，以常染色体显性方式遗传，具有可变的外显率。
我们报告了一例在一家三级儿童医院就诊的三个孩子的病例，他们患有不同严重程度的高血压和电解质紊乱，由于有强烈的高血压家族史而进行了基因检测。随后他们每个人都被发现存在与利德尔综合征一致的SCNN1B基因突变，并开始使用上皮钠通道抑制剂治疗，血压有所改善。
由于其可变的外显率，利德尔综合征可导致不同严重程度的血压和电解质紊乱。及时识别利德尔综合征对于预防未控制高血压引起的心血管并发症很重要。
