%0 Journal Article
%T Liddle syndrome: A case report.
%A Jin Y
%A Qiu W
%A Yao J
%J Med Clin (Barc)
%V 0
%N 0
%D Jun 2021 16
%M 34147249
%F 3.2
%R 10.1016/j.medcli.2021.03.035
%X <B>BACKGROUND: </B>Liddle syndrome is an autosomal dominant hereditary disease caused by a single gene mutation. Typical clinical manifestations are early-onset hypertension and hypokalaemia and can be treated using ENaC blockers (amiloride and aminopterin).<BR><B>METHODS: </B>This report describes a 17-year-old male with hypertension and hypokalaemia. We performed a Captopril inhibition test and a postural stimulation test for the diagnosis and typing of primary aldosteronism.<BR><B>RESULTS: </B>The serum renin was low, and aldosterone was high, so the patient was initially misdiagnosed as primary aldosteronism. After a genetic analysis, a diagnosis of Liddle syndrome was made due to the presence of an SCNN1B p.Pro617Ser mutation. After diagnosis, the patient was administered one tablet of amiloride twice a day (each tablet contains 2.5mg of amiloride hydrochloride and 25mg of hydrochlorothiazide 25mg). The patient's blood pressure (average of 120-135/70-80mmHg) and serum potassium levels (3.6-4.0mmol/L) returned to normal and were well-controlled after treatment.<BR><B>CONCLUSIONS: </B>The patient is an atypical case of Liddle syndrome; genetic analysis is helpful and essential for diagnosis.