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Table 1 Serum and urinary electrolytes, and hormonal parameters of our first patient

From: Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town

 

Admission to NICU (8 days)

Discharge (3 months)

Follow-up (6 months)

Na (mEq/l)

117

139

139

K (mEq/l)

9.6

4

3.91

Cl (mEq/l)

92

106

108.3

Urinary Na (mEq/l) (n.v. 54–150)

436

 

352

Urinary K (mEq/l) (n.v. 20–80)

1

 

3

ACTH (ng/l) (n.v. 5–55)

2.24

39.5

20

Aldosterone (ng/dl) (n.v. 0.37–3.1)

80.6

6.6

< 3.7

Renin (ng/dl) (n.v. 0.25–3.58)

2.1

 

< 1.8

Cortisol (μg/dl) (n.v. 6.2–19.4)

7.37

 

6.27

17-OH progesterone (ng/ml) (n.v. 0.32–3.32)

> 16

3.16

1.26