Liddle syndrome with a SCNN1B mutation: a case report and systematic review

Area of Science:

• Genetics
• Endocrinology
• Nephrology

Background:

• Liddle syndrome is an autosomal dominant disorder linked to epithelial sodium channel gene variants.
• SCNN1B variants are common, usually presenting with hypertension.
• This study explores clinical heterogeneity in Liddle syndrome.

Purpose of the Study:

• To report an atypical case of Liddle syndrome in a young female.
• To investigate the clinical spectrum of SCNN1B-related Liddle syndrome.
• To emphasize the importance of genetic diagnosis for atypical presentations.

Main Methods:

• Case report of a 16-year-old female with hypokalemia and suppressed renin/aldosterone.
• Genetic sequencing identified a heterozygous SCNN1B variant (c.1852 C>T, p.Pro618Ser).
• Systematic literature review of SCNN1B-related Liddle syndrome cases from PubMed.

Main Results:

• The patient presented with isolated hypokalemia, lacking the typical hypertension.
• Genetic analysis confirmed a novel SCNN1B variant.
• Literature review suggested clinical heterogeneity possibly linked to mutation loci.

Conclusions:

• Liddle syndrome can exhibit atypical presentations, such as isolated hypokalemia without hypertension.
• Recognizing these atypical forms, especially in younger patients, is vital.
• Genetic sequencing is essential for accurate diagnosis and timely management with ENaC blockers and potassium-sparing diuretics.