From: Functional evaluation of novel compound heterozygous variants in SLC12A3 of Gitelman syndrome
Characteristics | Test value | Reference value |
---|---|---|
Age at onset/diagnosis | 39/40 | — |
SBP/DBP (mmHg) | 118/79 | SBP: 90-140mmHg; DBP:60–90 mmHg |
Serum biochemical analysis | Â | Â |
 Potassium (mmol/L) | 2.05 | 3.50–5.30 |
 Magnesium (mmol/L) | 0.59 | 0.75–1.02 |
 Calcium (mmol/L) | 2.36 | 2.08–2.60 |
 Sodium (mmol/L) | 127.5 | 137.0-147.0 |
 Chloride (mmol/L) | 84.1 | 99.0-110.0 |
 Phosphorus (mmol/L) | 1.07 | 0.96–1.34 |
 Creatinine (µmol/L) | 59 | 59–104 |
 Urea nitrogen (mmol/L) | 4.58 | 3.1-8.0 |
Arterial blood gas analysis | Â | Â |
 PH | 7.48 | 7.35–7.45 |
 HCO3(mmol/L) | 29.0 | 21.0–27.0 |
 PO2 (mmHg) | 100 | 80–100 |
 PCO2 (mmHg) | 39 | 35–45 |
24-h urine test | Â | Â |
 Potassium (mmol/24 h) | 84.2 | 25–100 |
 Calcium (mmol/24 h) | 1.43 | 2.5–7.5 |
 Sodium (mmol/24 h) | 126.7 | 130–260 |
 Chloride (mmol/24 h) | 257.6 | 110–250 |
 Magnesium (mmol/24 h) | 6.4 | — |
Corticotropin and cortisol levels | Â | Â |
 Cortisol (8 am) (µg/dL) | 15.0 | 6.7–22.6 |
 Cortisol (4 pm) (µg/dL) | 5.7 | <10.0 |
 Cortisol (24 h) (µg/dL) | 1.98 | <10.0 |
 ACTH (8 am) (pg/mL) | 19.4 | 7.2–63.3 |
 ACTH (4 pm) (pg/mL) | 7.8 | 3.0–30.0 |
 ACTH (24 h) (pg/mL) | 1.3 | <20.0 |
RAAS (lying condition) | Â | Â |
 Renin (µg/L/h) | 2.53 | 0.13–1.74 |
 Angiotensin II (ng/L) | 78.7 | 23.0–75.0 |
 Aldosterone (pg/mL) | 258 | 30–160 |
RAAS (standing condition) | Â | Â |
 Renin (ng/mL/h) | 8.05 | 1.45-5.00 |
 Angiotensin II (ng/L) | 70.1 | 32.0–95.0 |
 Aldosterone (pg/mL) | 259 | 70–300 |