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Table 1 Clinical tests of the patient

From: A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia

Examination items Test value Reference value
Serum biochemicals
 Potassium (mmol/L) 3 3.5–5.3
 Sodium (mmol/L) 142 137.0–147.0
 Chloride (mmol/L) 99 99.0–110
 Calcium (mmol/L) 2.3 2.2–2.7
 Magnesium (mmol/L) 0.32 0.75–1.02
 Phosphate (mmol/L) 1.39 0.85–1.51
 CO2CP (mmol/L) 33.5 23–29
 creatine (umol/l) 43 41–73
 BUN (mmol/l) 3.15 2.6–7.5
Analysis of arterial blood gas
 PH 7.506 7.35–7.45
 PO2 (mmHg) 102 90–110
 PCO2 (mmHg) 35.1 35–45
 HCO3 (mmol/L) 28.9 22–27
Urine test
 Urine specific gravity 1.01 1.010–1.025
 PH 7.5 4.60–8.00
24-h urine
 Potassium (mmol/24 h) 89 51–100
 Calcium (mmol/24 h) 0.25 2.5–7.5
 Magnesium (mmol/24 h) 2.92 1.0–10.5
 Phosphate (mmol/24 h) 9.44 16–42
 Creatinine (mmol/24 h) 7.45 7–18
 Calcium/creatinine (mmol/mmol) 0.03 > 0.2
RAAS system Before high sodiuma After high sodium  
Plasma renin activity (ng /ml.h) 12.95 1.93 1.15–2.33
Angiotensin I (ng /ml) 16.45 3.76 0.07–1.5
Angiotensin II (pg /ml) 97.68 65.62 25–60
Aldosterone (pg / ml) 225.1 152.9 30–160
ARR (ng/dl:ng/ml.h) 1.74 7.92 < 20
  1. High sodium load testa: the patient has intravenous infusion of 0.9% saline, at a rate of 500 ml/h for 4 h between 8:00 and 12:00 am, and takes blood tests of aldosterone, renin activity, angiotensin before and after infusion. In patients with GS or normal people, plasma aldosterone and renin activity will be inhibited, while in patients with primary aldosteronism, plasma aldosterone levels are not inhibited