Figure 1.
The novel αENaC mutation is characterized clinically by hypertension, suppressed plasma renin and aldosterone, and an exaggerated natriuretic response to an ENaC blocker. (A) Pedigree showing three generations of the family with Liddle syndrome. Generation II was analyzed by genotyping and biochemical profiling. The arrow indicates the proband. (B) Sequence chromatogram. (C) The C479R mutation segregated with suppressed plasma renin and aldosterone but not with hypertension. Renin and aldosterone were measured in the absence of interfering drugs. Dashed lines represent lower limits of normal. HT, hypertension; NT, normotension; WT, wild type. (D) Results of a standardized diuretic test showing the natriuretic response to a single dose of the ENaC blocker triamterene in the proband and subject II-4 in comparison with healthy volunteers.13 *Proband; #subject II-4.