Table 1.
Case | 1 | 2 | 3 | 4 | 5 |
---|---|---|---|---|---|
Name | L86P | M272R | W323_I324insR | R113Q | C192S |
Type of mutation | Missense | Missense | In-frame insertion | Missense | Missense |
Locationa | TM2 | TM6 | TM7 | ECL1 | ECL2 |
Gender | M | M | M | M | M |
Time to diagnosis | 1 month | 6 months | 1.5 months | 15 years | 18 months |
Serum Na+ (mM) | 156 | 156 | 167 | 155 | 156 |
Serum Osm (mOsm/KgH2O) | 316 | 320 | 345 | 315 | 317 |
U Osm pre dDAVP (mOsm/KgH2O) | 229 | 65 | 82 | 140 | 120 |
U Osm post dDAVP (mOsm/KgH2O) | 158 | 86 | 64 | 162 | 150 |
aTM, transmembrane; ECL, extracellular loop.