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Table 1 Biochemical characteristics of the GS subject

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

  

 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

  

 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

  

 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

  

 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)

  

 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)

  

 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

  1. SBP: systolic blood pressure; DBP: diastolic blood pressure, ACTH: adrenocorticotropic hormone; RAAS: renin-angiotensin-aldosterone system; h: hour