Table 3.
Severity of PHAII stratified by genotype1
| Mutated Gene | No. of Families | No. of People Affected | HTA4 <age 18 yr, % | Age at Diagnosis, yr | K+,5 mM | HCO3−,6 mM |
|---|---|---|---|---|---|---|
| Cullin 3 | 17 | 21 | 94 | 9 ± 6 | 7.5 ± 0.9 | 15.5 ± 2.0 |
| Kelch Rec2 | 8 | 14 | 14 | 26 ± 14 | 6.8 ± 0.5 | 17.6 ± 1.5 |
| Kelch Dom3 | 16 | 40 | 17 | 24 ± 18 | 6.2 ± 0.6 | 17.2 ± 2.5 |
| WNK4 | 5 | 15 | 10 | 28 ± 18 | 6.4 ± 0.7 | 20.8 ± 2.3 |
| WNK1 | 2 | 23 | 13 | 36 ± 20 | 5.8 ± 0.8 | 22.4 ± 4.6 |
PHAII, pseudohypoaldosteronism type II; 1, modified from Boyden et al. (10); 2, recessive; 3, dominant; 4, hypertension; 5, serum potassium; 6, serum bicarbonate.