Parameter Thr158Ala Gly151Glu Gly151Arg Ile157Ser Tyr152Cys Glu145Gln
Family (patients) 1(3) 3(8) 4(6) 1(2) 1(1) 2(2)
Sex (M:F) 1:2 4:4 1:5 0:2 0:1 1:1
Age at diagnosis
(years) 4-7 1-18 1-7 2-7 48 2
Minimum serum K+ (mEq/L)
1.8-3.0 1.8-3.5 1.4-3.2 2.7 2.1 2.0-2.3
Serum Aldosterone (ng/dL)
137-185 113-187 23-109.6 118 24 >180
SBP/DBP (mmHg) 160-200/
114-148
130-160/
80-120
120-210/
70-140
150-170/
100
250/130 115-140/65-90
Other signs and
symptoms Polyuria, polydipsia, nicturia, myalgia, LVH
Polyuria, polydipsia, LVH,
nephrocalcinosis
Polyuria, polydipsia, alkalosis, muscular weakness
None End stage renal
disease Polyuria, polydipsia.
Concomitant cortisol hypersecretion in one patient
Adrenal glands Enlarged, nodular hyperplasia
Normal Enlarged / normal Enlarged (diffuse hyperplasia)
Nodular hyperplasia Diffuse
hyperplasia /normal Treatment Bilateral
adrenalectomy
Antihypertensive drugs (including spironolactone and amiloride).
Adrenalectomy when MRA were not available
4 bilateral
adrenalectomies *, one pharmacological therapy
(spironolactone).
One bilateral adrenalectomy, one left + partial right adrenalectomy
Left adrenalectomy One bilateral adrenalectomy, one left adrenalectomy awaiting right adrenalectomy
Ref (14, 15) (24, 25, 31) (24, 33) (34) (23) (22, 35)
Table 1. Clinical and biochemical features, histological characteristics and treatment of FH-III families according to KCNJ5 mutations.
M – male, F – female, SBP – systolic blood pressure, DBP – diastolic blood pressure, LVH – left ventricular hypertrophy, MR – mineralocorticoid receptor antagonists, *In the case described in this manuscript left adrenalectomy followed by partial right adrenalectomy was performed
