Table 1. Clinical characteristics of the examined subjects of the three pedigrees carrying the βP617L mutation.

Subjects with proven βP617L mutation	A IV-1	B V-1	B IV-2	B IV-3	B III-3	C IV-1	C III-2	C III-3	C II-2
Sex	M	M	M	F	F	M	F	F	F
Age at genetic analysis, ys	19	21	41	48	71	0.1	24	22	44
Age at diagnosis of HT, ys	16	17	31	18	22	-	11	25	19
SBP/DBP before treatment, mmHg	164/94	168/105	145/100	150/94	156/96	-	180/134	140/100	190/130
Post-Tx SBP/DBP, mmHg	127/70	128/84	-	122/80	130/76	-	125/80	-	148/94
[K+], mmol/L	2.8	4.6	4.7	4.3	3.9	4.5	3.0	3.8	-
Post-Tx [K+]	4.3	5.2	-	4.2	4.4	-	4.1	-	-
Pre-Tx PRA, ng/ml/h	0.1	0.3	0.3	0.8	0.8	-	0.1	0.2	-
Post-Tx PRA, ng/ml/h	0.8	2.5	-	6.4	2.7		3.0	-	-
Pre-Tx p[Aldo], ng/dL	<1.0	3.0	1.5	1.5	3.0	-	<1.0	3.4	-
Post-Tx p[Aldo], ng/dL	1.5	10.0	-	7.5	6.8	-	5.9	-	-

HT, hypertension; SBP, systolic blood pressure; DBP, diastolic blood pressure; Tx, treatment with amiloride; PRA, plasma renin activity in sitting position; p[Aldo], plasma aldosterone in sitting position. The patients are indicated as in the Figure 1. B IV-2 declined treatment and follow-up. C IV-1 was newly born at the time of genetic analysis. C III-3 developed hypertension 3 years after the genetic analysis