New SLC12A3 disease causative mutation of Gitelman’s syndrome

Table 1 Biochemical characteristics of the two Gitelman’s syndrome affected patients

Variable	Patient 1	Patient 2	Reference values
Blood tests
Creatinine (mg/dL)	1.11	0.93	0.7-1.2
Glucose (mg/dL)	104	97	75-110
Sodium (mEq/L)	141	140	135-145
Potassium (mEq/L)	3.21	3.01	3.5-5.0
Chloride (mEq/L)	98	951	97-108
Calcium (mg/dL)	9.7	10.41	8.6-10.2
Phosphate (mg/dL)	4.1	3.4	2.5-4.5
Magnesium (mEq/L)	1.51	1.9	1.6-2.6
Aldosterone (pg/mL)	3151	271	35-300
Renin (pg/mL)	59.71	53.41	3.2-32.6
Urine tests
FEMg (%)	2.6	4.11	0.5-4.0
FEK (%)	23.71	17.71	< 10
Sodium (mEq/24 h)	200	247.51	40-220
Potassium (mEq/24 h)	104.8	87.2	25-125
Calcium (mg/24 h)	841	85.51	100-300
Phosphate (g/24 h)	1.15	1.01	0.4-1.3
Magnesium (mg/24 h)	591	128.51	73-122
Calcium/creatinine (mg/mg)	0.055	0.056	< 0.2

¹Abnormal values. FEMg: Fractional excretion of magnesium; FEK: Fractional excretium of potassium.