Abstract:Liddle syndrome (OMIM #177200) is an autosomal dominant disorder caused by gain-of-function pathogenic variants in the genes encoding epithelial sodium channel subunits, including α (SCNN1A), β (SCNN1B), and γ (SCNN1G). The majority of the reported cases carry SCNN1B variants (∼90%), and SCNN1A/G variants are relatively infrequent. Here, we report a 24-year-old Chinese male patient diagnosed with early-onset hypertension. Laboratory tests revealed hypokalemia with a low level of plasma renin activity. Liddle s… Show more
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