Table 1.
Phenotypes of enrolled classic BS patients carrying homozygous CLCNKB point mutations
| Mutation | Remaining Cl− current (% of WT) | Age at diagnosis (years) | Serum Cl− (mm) | Serum K+ (mm) | Serum Mg2+ (mm) | Serum HCO3 − (mm) | Renin (*) | Aldo (*) | PGE (mm) | Urine Ca2+/Cr (mmol mmol–1) | Urine Cl− (mmol day–1) | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L81P | 35 | 0.4 | NA | 1.9 | 1.2 | 36 | 10 | 0 | NA | 1.29 | NA | Keck et al. (2013) |
| R92W | 67 | 20 | NA | 2.0 | 0.67 | 30 | NA | NA | NA | NA | 427.2 | Vargas‐Poussou et al. (2011) |
| G164C | 31 | 14 | 89 | 2.4 | 0.61 | 33 | NA | NA | 140 | 0.42 | NA | Al‐Shibli et al. (2014) |
| G164C | 31 | 8 | 96 | 2.3 | 0.92 | 31 | NA | NA | 70 | 0.55 | NA | Al‐Shibli et al. (2014) |
| G164C | 31 | 11 | 96 | 2.7 | 0.71 | 32 | NA | NA | 74 | 0.06 | NA | Al‐Shibli et al. (2014) |
| G164C | 31 | 8 | 89 | 2.3 | 0.85 | 32 | NA | NA | 44 | NA | NA | Al‐Shibli et al. (2014) |
| V170M | 60 | 43 | 99 | 2.74 | 1.03 | 34 | 0 | 0 | NA | 0.15 | NA | Andrini et al. (2014) |
| V170M | 60 | 24 | 97 | 2.8 | 0.77 | 32 | 6.5 | 1.2 | NA | 0.31 | NA | Andrini et al. (2014) |
| V170M | 60 | 60 | NA | 2.9 | 0.78 | NA | 4.3 | 2.5 | NA | NA | NA | Andrini et al. (2014) |
| V170M | 60 | 37 | 95 | 2.9 | 0.78 | 36 | 2 | 4 | NA | 0.49 | NA | Andrini et al. (2014) |
| A242E | 3 | 0.2 | 90 | 2.8 | 0.8 | 30 | NA | NA | NA | 1.13 | NA | Bettineli et al. (2007) |
| A242E | 3 | 0.7 | 94 | 2.5 | 0.91 | 32 | NA | NA | NA | 0.93 | NA | Bettineli et al. (2007) |
| G246R | 10 | 0.5 | 76 | 3.0 | 0.9 | 33 | NA | NA | NA | 0.8 | NA | Keck et al. (2013) |
| G296D | 27 | 0.1 | NA | 2.8 | NA | NA | NA | NA | NA | NA | NA | Vargas‐Poussou et al. (2011) |
| S297R | 61 | 0.6 | NA | NA | low | NA | NA | NA | NA | high | NA | Konrad et al. (2000) |
| A349D | 10 | 0.1 | NA | 2.4 | NA | 32 | NA | NA | NA | 1.4 | NA | Simon et al. (1997) |
| G424E | 6.3 | 13 | 91 | 2.8 | 0.78 | 32 | 2.3 | NA | NA | NA | NA | Keck et al. (2013) |
| I447T | 55 | 46 | 98 | 3.0 | 0.64 | 31 | NA | NA | NA | 0.07 | 157 | Vargas‐Poussou et al. (2011) |
| G470E | 6.6 | 0.75 | 93 | 2.5 | NA | 27 | NA | NA | NA | NA | NA | Lin et al. (2009) |
*Times above the upper limit for age. Aldo, aldosterone; NA, not available; PGE, urinary prostaglandin E2; WT, wild‐type.