Skip to main content

Table 1 Laboratory test results at presentation

From: One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature

Test

Result

Range normal values

Blood

 Alanine transaminase

37 U/L

10–50 U/L

 Aspartate transaminase

45 U/L

20–60 U/L

 Glucose

88 mg/dl

60–105 mg/dl

 Creatinine

0.3 mg/dl

0.2–0.6 mg/dl

 Blood urea nitrogen

12 mg/dl

8–28 mg/dl

 Sodium

139 mmol/L

135–148 mmol/L

 Potassium

7.13 mmol/L

3.5–5.8 mmol/L

 Chloride

108 mmol/L

96–111 mmol/L

 Calcium

9.7 mg/dl

8.0–10.7 mg/L

 Phosphate

7.3 mg/L

4.8–8.1 mg/L

 Magnesium

2,2 mg/dl

1.6–2.6 mg/dl

 Lactate

91.8 mg/dl

4.5–19.8 mg/dl

 Ammonia

185 μg/dl

29–70 μg/dl

Blood gas (capillary)

 pH

7.20

7.34–7.43

 HCO3

19 mEq/L

19–24 mEq/L

 Base excess

− 6 mEq/L

− 7 to − 1 mEq/L

 Serum anion gap

12 mEq/L

8–16 mEq/L

Urine

 Sodium (Na+)

85.4 mmol/L

 

 Chloride (Cl)

81.1 mmol/L

 

 Potassium

4.5 mmol/L

 

 Fractional excretion of sodium

3.3%

1–2%

 Fractional excretion of potassium

4.6%

10–30%

 Urine anion gap

+ 8.8

negative

Hormones (blood)

 17-α-Hydroxyprogesterone

1.1 nmol/L

< 2.5 nmol/L

 21-α-Hydroxylase

Normal

 

 Cortisol

26.5 μg/dl

5–25 μg/dl

 Dehydroepiandrosterone

1.89 nmol/L

35–430 nmol/L

 Renin

5.0 ng/ml/hour

0.5–3.9 ng/ml/hour

 Aldosterone

> 1717 pg/ml

25–190 pg/ml