Table 1

Clinical features of patients before treatment with hydrochlorothiazide and amiloroide

CaseAge1-150(months)Serum sodium (mmol/l)Serum potassium (mmol/l)24 h urine volume (ml/kg bw)24 h urine osmolality (mmol/l)Urine osmolality before DDAVP (mmol/l)Urine osmolality after DDAVP (mmol/l)Plasma AVP (pg/ml)Genetic mutation of V2 receptor gene
251604.736089190210Point mutation ( T975 →A)
3141666.1432118641523.0Point mutation ( T727 →G)14
4331455.833682821053.1Point mutation ( T727 →G)14
  • 1-150 At onset of treatment. While normally rehydrated.Reference values mean (SD) 1.1 (0.6) pg/ml.15