Table 2 Comparison of Case Reports

Age (years)

17

36

34

26

Race/Gender

Texan/M

W/M

W/M

AA/M

K (mEq/L)

2.2

2.0

2.2

1.5

HCO3 (mEq/L)

40

38

42

pH

7.49

7.54

7.55

Urine Na (mEq/L)

23 (0.2%) ^a

<  20

126 ^b

<  10

Urine Cl (mEq/L)

12 (0.2%) ^a

<  20

10 ^b

<  15 ^c

Urine K (mEq/L)

44 (29%) ^a

86

5 ^b

13.8

Plasma renin (ng/ml//hr)

Normal

21.81 (High)

Normal ^b

28.21 (High)

Plasma aldosterone (ng/dL)

Low to normal

33 (High)

Normal ^b

6 (Normal)

CFTR Gene Mutation

Heterozygous

p. F508Del and R 117H

p. F508Del and 2789 + 2insA

Heterozygous deletion of Exon17a-18 and 2789 + 5 G → A.

Heterozygous p.F508Del and (TG)12-5 T

Other features

3 of 5 siblings with same mutations

Azoospermia, Mild obstruction with air trapping on pulmonary function test, chest HRCT normal and BMI 30.3 kg/M²

Azoospermia, ‘tree in bud” pattern and bronchiectasis on CT, and adipose pancreas on CT

Pulmonary function test normal, chest HRCT normal, BMI 54 kg/M²

(Recent BMI 83 kg/M² in 2019),

Lipase normal