Cation transport studies
| Donor . | Storage time before analysis . | Intracellular Na and K . | K influx at 5 mM external K 86Rb tracer . | |||
|---|---|---|---|---|---|---|
| [Na] . | [K] . | NaK pump . | NaK2Cl cotransport . | Leak . | ||
| mM cells . | Ouabain sensitive . | Bumetanide sensitive . | Ouabain + bumetanide insensitive . | |||
| h/°C . | mM cells/h . | |||||
| Proband | 1/20 | 7.4 | 97.3 | 2.225 | 0.497 | 0.058 |
| Mother | 1/20 | 9.5 | 102.0 | 2.098 | 0.240 | 0.071 |
| Control | 1/20 | 12.1 | 100.6 | 1.851 | 0.846 | 0.096 |
| Normal range | 5-11 | 85-105 | 1-2 | 0-1 | 0.05-0.10 | |
| Donor . | Storage time before analysis . | Intracellular Na and K . | K influx at 5 mM external K 86Rb tracer . | |||
|---|---|---|---|---|---|---|
| [Na] . | [K] . | NaK pump . | NaK2Cl cotransport . | Leak . | ||
| mM cells . | Ouabain sensitive . | Bumetanide sensitive . | Ouabain + bumetanide insensitive . | |||
| h/°C . | mM cells/h . | |||||
| Proband | 1/20 | 7.4 | 97.3 | 2.225 | 0.497 | 0.058 |
| Mother | 1/20 | 9.5 | 102.0 | 2.098 | 0.240 | 0.071 |
| Control | 1/20 | 12.1 | 100.6 | 1.851 | 0.846 | 0.096 |
| Normal range | 5-11 | 85-105 | 1-2 | 0-1 | 0.05-0.10 | |