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

• मुख्य लेखकों: Jiajia Tian (लेखक), Fei Xiang (लेखक), Liandi Wang (लेखक), Xueyi Wu (लेखक), Lijuan Shao (लेखक), Li Ma (लेखक), Chuwen Fang (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Karger Publishers, 2024-09-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...