Liddle Syndrome with a SCNN1A Mutation: A Case Report and Literature Review

• Main Authors: Jiajia Tian (Author), Fei Xiang (Author), Liandi Wang (Author), Xueyi Wu (Author), Lijuan Shao (Author), Li Ma (Author), Chuwen Fang (Author)
• Format: Book
• Published: Karger Publishers, 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Introduction: Liddle syndrome is an autosomal dominant monogenic disease that mainly manifests as early-onset hypertension, hypokalaemia and metabolic alkalosis, as well as hyporeninaemia and hypoaldosteronism. The aetiology of Liddle syndrome is missense or frameshift mutations in the SCNN1A, SCNN1...