Prevalence of Liddle Syndrome Among Young Hypertension Patients of Undetermined Cause in a Chinese Population

Secondary hypertension Penetrance Essential hypertension Epithelial sodium channel
DOI: 10.1111/jch.12598 Publication Date: 2015-06-15T10:27:58Z
ABSTRACT
Liddle syndrome, an autosomal dominant form of monogenic hypertension, has been regarded as a rare disorder, which leads to many syndrome patients being misdiagnosed and experiencing severe complications at early age. Little is known about the prevalence syndrome. In this study, authors investigated confirmed by genetic testing among young hypertension undetermined causes in China. A total 330 hypertensive aged 14 40 years after exclusion common secondary were enrolled serum potassium concentrations measured. Patients with hypokalemia underwent 13th exon genes encoding β γ subunits epithelial sodium channel ( ENaC ). Diagnosis was established identification mutations that destroy PY motif . Five diagnosed (prevalence, 1.52%), well 12 their relatives. These presented earlier onset stronger family history higher blood pressure than those essential hypertension. All had suppressed plasma renin activity. The results demonstrated important etiology population. Screening should focus on patients, particularly penetrance, hypokalemia, low levels causes.
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