Table 1 Biochemical characteristics of the proband
From: A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree
Variable | Test Value | Reference range |
|---|---|---|
Blood tests | ||
Potassium (mmol/L) | 2.7a | 3.5–5.3 |
Sodium (mmol/L) | 138 | 137–147 |
Chloride (mmol/L) | 93a | 99–110 |
Calcium (mmol/L) | 2.45 | 2.20–2.70 |
Phosphate (mmol/L) | 1.39 | 0.80–1.60 |
Magnesium (mmol/L) | 0.57a | 0.60–1.10 |
Urea nitrogen (mmol/L) | 3.26 | 2.50–7.14 |
Creatinine (μmol/L) | 51 | 40–115 |
Fasting blood glucose (mmol/L) | 4.33 | 4.16–5.83 |
OGTT-2 h Blood glucose (mmol/L) | 9.58a | 3.89–7.77 |
Uric acid (μmol/L) | 597a | 137–393 |
Renin (μg/L·h) | 3.79a | 0.13 – 1.94 |
Angiotensin (ng/L) | 77.73a | 23–75 |
Aldosterone (ng/L) | 82.9 | 30–170 |
Arterial blood gas analysis | ||
pH | 7.457 | 7.350–7.450 |
Bicarbonate (mmol/L) | 29.3 | 21.4–24.8 |
24-h Urine tests | ||
Calcium (mmol/d) | 0.5 a | 2.5–7.5 |
Potassium (mmol/d) | 62.63a | ≤ 25 |
Magnesium (mmol/d) | 1.35a | 2.1–8.19 |
Sodium (mmol/d) | 78 | 130–261 |
Chloride (mmol/d) | 124 | 177–255 |
Uric acid (μmol/d) | 2170 | 1480–4430 |
Spot urine test | ||
Calcium/creatinine (mmol/mmol) | 0.009a | |