{"title":"小儿利德尔综合征继发性高血压3例报告。","authors":"Zheyi Teoh, Siddharth Shah","doi":"10.5414/CNCS109972","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":10398,"journal":{"name":"Clinical Nephrology. Case Studies","volume":"8 ","pages":"37-40"},"PeriodicalIF":0.0000,"publicationDate":"2020-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303542/pdf/","citationCount":"3","resultStr":"{\"title\":\"A case report of three children with secondary hypertension caused by Liddle syndrome.\",\"authors\":\"Zheyi Teoh, Siddharth Shah\",\"doi\":\"10.5414/CNCS109972\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":10398,\"journal\":{\"name\":\"Clinical Nephrology. Case Studies\",\"volume\":\"8 \",\"pages\":\"37-40\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-05-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303542/pdf/\",\"citationCount\":\"3\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Nephrology. Case Studies\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5414/CNCS109972\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2020/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Nephrology. Case Studies","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5414/CNCS109972","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2020/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
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.