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Table 1 Laboratory examination of the patient

From: A case of Gitelman syndrome with homozygous SLC12A3 deletion presenting with epilepsy

Parameter

Test value

Reference range

Potassium (mmol/L)

1.83 – 3.48

3.50 – 5.30

Sodium (mmol/L)

138 – 142

137 – 147

Sodium (mmol/L)

94 – 104

99 – 110

Calcium (mmol/L)

2.2

2.10 – 2.60

Phosphorus (mmol/L)

1.14

0.90 – 1.50

Magnesium (mmol/L)

0.42

0.65 – 1.05

pH

7.469

7.350 – 7.450

pO2(mmHg)

99.2

83.0 – 108.0

pCO2 (mmHg)

44.6

35.0 – 45.0

HCO3 act (mmol/L)

 

22.0 – 26.0

BE (vt) (mmol/L)

7.6

-3.0 – 3.0

Total bilirubin (umol/L)

10

0 – 20

Total protein (g/L)

78.3

65.0 – 85.0

Albumin (g/L)

42.5

40.0 – 55.0

Glucose (mmol/L)

4.2

3.9 – 6.1

Carbamide (mmol/L)

2.1

2.8 – 7.2

Creatinine (umol/L)

71

35 – 80

eGFR

105.2

 

Uric Acid (umol/L)

426

155 – 357

Total Cholesterol (mmol/L)

2.86

2.44 – 5.17

Triglyceride (mmol/L)

1.31

0.40 – 1.70

HLD (mmol/L)

0.72

1.29 – 1.55

LDL (mmol/L)

1.95

2.07 – 3.10

Homocysteine (umol/L)

18

0 – 15.0

Creatine kinase (U/L)

88

26 – 140

Thyroxine (nmol/L)

183.36

69.97 – 152.52

TSH (mIU/L)

4.09

0.38 – 5.33

HbA1c (%)

5

4.2 – 6.2

ACTH (ng/L)

32.1

0.00 – 46.0

Cortisol (ng/L)

220.72

 

Orthostatic RAAS

  

Angiotensin (pg/ml)

98.76

50.00 – 120.00

Aldosterone (pg/ml)

190.6

40 – 310

Renin (pg/ml)

479.1

4 – 38

  1. eGFR estimated glomerular filtration rate, HDL high-density lipoprotein, LDL low-density lipoprotein, TSH Thyroid stimulating hormone, ACTH adrenocorticotropic hormone, RAAS renin–angiotensin–aldosterone system