Clinical Features and Mutations in Children with Liddle Syndrome: A Systematic Review of Case Reports

Abstract

Background: Liddle syndrome, an autosomal dominant condition, is a rare cause of hypertension, resulting from gain-of-function mutation in genes which encode the subunits of the epithelial sodium channel (ENaC). Objective: The present systematic review focuses on clinical features, genes involved, mutations, and pharmacological management. Methods: A comprehensive search was done in major databases, PubMed and Google Scholar using defined search terms encompassing case reports or case series on Liddle syndrome. The identified reports underwent screening by three different authors for inclusion and exclusion criteria. Results: In total, 44 cases were included from 35 articles. The median age of the children was 14 years, with a slightly higher proportion of males 63.63% (28/44). The most common clinical feature was hypertension (97.7%). Hypertension was controlled in all patients using ENaC channel blockers, amiloride, or triamterene. Conclusion: This is one of the first reviews collating data on Liddle syndrome. Mutations in SCNN1B were most common, with hypertension being the most consistent clinical feature.