Table 1.
Biological characteristics of the 153 familial hyperkalemic hypertension patients according to their genotype
| All patients (N = 153) | Normal values (when applicable) |
CUL3 n = 19 |
KLHL3 AR n = 16 |
KLHL3 AD n = 56 |
WNK4 n = 10 |
WNK1 intron 1 del. n = 23 |
WNK1 acidic motif n = 29 |
P (Kruskal-Wallis test) |
|---|---|---|---|---|---|---|---|---|
| Sex M/F | 9/10 | 13/3 | 23/33 | 5/5 | 9/14 | 13/16 | ||
| age at work-up, years | 7 [2-16]Hν | 9 [4-26] | 33 [19-52] ν | 38 [13-43] | 36 [17-49] H | 27 [6-45] | <0.0001 | |
| age at discovery∗ | 5.5 [2.0-14.3]N | 5.5 [2.5-31.7] | 24.0 [11.0-44.0]N | 19.0 [15.8 -27.5] | 36.0 [8.0-37.0] | 16.5 [4.8-24.25] | 0.0308 | |
| Na+, mmol/l | 136-145 | 138 [136-140]7 | 138 [136-139]3 | 139 [137-140]7 | 139 [137-141] | 139 [139-140]1 | 140 [139-141]7 | 0.04 |
| K+, mmol/l | 3.5-5.1 | 7.1 [6.8-7.6]4€Hν | 6.9 [5.8-8.0]1Δθμ | 5.5 [5.2-6.0]9μν | 5.9 [5.4-6.4] | 5.5 [5.3-5.8]1θH | 5.7 [5.1-6.1]4Δ€ | <0.0001 |
| Cl-, mmol/l | 95-105 | 113 [111-116]4Eην | 111 [109-113]3M | 107 [105-110]11Mν | 112 [108-114]1 | 108 [106-111]1η | 108 [106-110]7E | <0.0001 |
| HCO3-, mmol/l | 22.0-27.0 | 16.0 [15.1-17.0]6Hνλ | 18.2 [15.0-19.5]3Θμ | 22.0 [19.4-23.5]13μν | 22.1 [18.8-23.8]λ | 23.8 [22.0-27.0]1ΘHα | 19.7 [18.2-21.1]7α | <0.0001 |
| eGFR, ml/min per 1.73 m2∗∗ | >90 | 117 [100-131]10 | 108 [104-193]8 | 94 [82-108]21 | 96 [84-138]1 | 88 [58-139]4 | 94 [73-124]11 | nd |
| Protides, g/l | 63-78 | 70 [60-73]12 | 72 [66-83]12 | 70 [65-73]11 | 69 [67-70] | 69 [65-71]2 | 66 [64-73]10 | nd |
| Uric acid, μmol/l | 137-393 | 225 [170-369]13 | 291 [291-316]12 | 279 [166-320]47 | 222 [177-311]5 | 182 [182-182]22 | 178 [160-193]14 | nd |
| Total calcium, mmol/l | 2.09-2.52 | 2.38 [2.30-2.50]13 | 2.31 [2.20-2.40]11 | 2.32 [2.21-2.44]34 | 2.31 [2.27-2.40] | 2.48 [2.48-2.48]22 | 2.32 [2.21-2.40]8 | nd |
| Magnesium, mmol/l | 0.64-0.90 | 0.86 [0.84-0.89]17 | 0.73 [0.70-0.90]12 | 0.82 [0.75-0.86]49 | 0.86 [0.86-0.86]9 | 0.69 [0.66-0.79]19 | 0.79 [0.76-0.81]22 | nd |
| Renin lying, pg/ml ∗∗∗ | 1.5-17.0 | 2.5 [0.6-2.9]12 | 2.7 [1.5-4.4]9 | 3.3 [1.4-5.0]35 | 6.1 [3.4-10.0]3 | 5 [2.8-9.0]13 | 2.3 [0.8-5.1]16 | nd |
| Aldosterone lying, pg/ml (RIA)∗∗∗ | 40-200 | 102 [28-514]9 | 50 [21-148]7 | 56 [37-127]30 | 190 [41-258]2 | 105 [60-207]12 | 188 [69-242]12 | nd |
AD, autosomal dominant; AR, autosomal recessive; del., deletion; eGFR, estimated glomerular filtration rate; F, female; M, male; nd, not done; RIA, radioimmunoassay.
Values are given in Median [interquartile range]. The number of missing values is after the brackets.
KLHL3 AD vs CUL3 with ∗: N, with ∗∗∗: ν ;
WNK1 acidic motif vs KLHL3 AR with ∗:Δ;
WNK1 acidic motif vs CUL3 with ∗∗: Ε and with ∗∗∗:€;
WNK1 intron 1 deletion vs KLHL3 AR with ∗: θ and with ∗∗∗: Θ;
WNK1 intron 1 deletion vs CUL3 with ∗∗: η and with ∗∗∗:Η;
KLHL3 AD vs KLHL3 AR with ∗: μ; with ∗∗:M
WNK1 acidic motif vs WNK1 intron 1 deletion with ∗: α;
WNK4 vs CUL3 with ∗: λ.
age at discovery for index patients only.
eGFR for estimated Glomerular Filtration Rate, using Modification of Diet in Renal Disease to estimate the clearance of creatinine for patients >18 years old; using Schwartz formula for patients < 18 years old.
Renin and Aldosterone lying excepted newborns. P values correspond to Kruskal-Wallis test. Statistical significance is given by superscript after square brackets as follow: ∗is P < 0.1; ∗∗is P < 0.01; ∗∗∗is P< 0.001 (P values were adjusted to account for multiple comparisons).