Table 5. Summary of genotypic and phenotypic characteristics of the patients.
| Phenotypes | SLC12A3 |
CLCNKB (n=3) |
SLC12A3/CLCNKB mixed (n=2) |
||
|---|---|---|---|---|---|
| Homozygous (n = 7) |
Compound heterozygous (n = 16) |
Single heterozygous (n = 6) |
|||
| Onset time | |||||
| Age (onset, yr) | 15.7 ± 5.7 | 29.2 ± 13.4 | 33.2 ± 13.0 | 23.3 ± 5.5 | 22.0 ± 4.2 |
| Presentation time | |||||
| Age (yr) | 22.1 ± 5.3 | 31.8 ± 15.9 | 33.2 ± 13.0 | 23.3 ± 5.5 | 22.0 ± 4.2 |
| Systolic BP (mmHg) | 106.7 ± 16.5 | 111.4 ± 9.1 | 118.0 ± 7.0 | 113.0 ± 6.6 | 102.5 ± 10.6 |
| [K+] (mM/L) | 2.9 ± 0.4 | 2.8 ± 0.3 | 3.1 ± 0.2 | 2.9 ± 0.2 | 3.1 ± 0.1 |
| [Mg2+] (mM/L) | 0.63 ± 0.06 | 0.55 ± 0.07 | 0.66 ± 0.10 | 0.81 ± 0.11 | 0.60 ± 0.04 |
| Hypomagnesemia ([Mg2+] < 0.75 mM/L) | 7/7 (100%) | 16/16 (100%) | 5/6 (83.3%) | 1/3 (33.3%) | 2/2 (100%) |
| Urine Ca/Cr (mM/mM) | 0.08 ± 0.11 | 0.14 ± 1.07 | 0.11 ± 0.06 | 0.41 ± 0.14 | 0.17 ± 0.13 |
| Hypocalciuria (Urine Ca/Cr | 4/7 (57.1%) | 13/15 (86.7%) | 6/6 (100%) | 0/3 (0.0%) | 0/2 (0.0%) |
| Last follow-up time [K+] (mM/L) | 4.0 ± 0.6 | 3.5 ± 0.5 | 3.4 ± 0.3 | 4.1 ± 0.2 | 3.5 ± 0.5 |
| Hypokalemia ([K+] < 3.5 mM/L) | 1/7 (14.3%) | 7/16 (43.8%) | 3/6 (50.0%) | 0/3 (0.0%) | 1/2 (50.0%) |
| [Mg2+] (mM/L) | 0.76 ± 0.10 | 0.59 ± 0.09 | 0.78 ± 0.16 | 0.81 ± 0.11 | 0.69 ± 0.14 |
| Hypomagnesemia ([Mg2+] < 0.75 mM/L) | 3/7 (42.9%) | 15/16 (93.8%) | 4/6 (66.7%) | 1/3 (33.3%) | 1/2 (50.0%) |
| K+ replacement (mM/d) | 91.4 ± 49.5 | 126.5 ± 82.2 | 96.7 ± 69.0 | 117.3 ± 44.1 | 376.0 ± 147.1 |
| Mg2+ replacement (mM/d) | 47.6 ± 86.0 | 98.6 ± 119.6 | 29.5 ± 46.1 | 0.0 ± 0.0 | 440.5 ± 623.0 |
BP, blood pressure (in mmHg); [K+], serum potassium concentration (mM/L); sHCO3-, serum bicarbonate (mM/L); [Mg2+], serum magnesium concentration (mM/L); Ca/Cr, calcium-to-creatinine ratio (mM/mM).