Skip to main content

Table 1 Clinical and molecular data of non-CSD and sCSD patients

From: Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely

Patient #

Actual age (months)

Sex (m/f)

GA (months)

BW (g)

ppH

pNa (mmol/L) (136–145)

uNa (mmol/L) (30–250)

pCrea (mmol/L) (0.05–0.1)

uCrea (mmol/L) (3.5–24.6)

FENa (%) (0.5–1.5)

uNa/uCrea (mmol/mmol) (17–53)

fNa (mmol/L) (20–50)

fpH (6.5–7.5)

Non-sCSD

 1

180

M

39

3270

7.38

140

101

0.09

3.8

1.7

26.6

28

5.0

 2

156

M

40

3360

7.37

140

129

0.10

7.0

1.3

18.4

17

7.5

 3

84

M

37

2510

7.38

138

54

0.06

3.5

0.7

15.4

29

7.5

 4

480

F

n.i.

2500

7.39

141

248

0.10

6.2

2.8

40.0

32

5.5

 5

96

M

33

1835

7.29

139

192

0.05

9.2

0.8

20.9

38

8.0

 6

108

F

38

3650

7.20

142

161

0.05

9.7

0.6

16.6

24

7.0

 7

184

M

39

3350

7.14

145

199

0.06

9.2

0.8

21.6

24

5.5

 8

158

M

39

2700

7.30

139

n.i.

0.05

n.i.

n.i.

n.i.

39

9.0

 9

144

F

n.i.

3270

7.35

140

133

0.04

9.3

0.4

9.3

14

6.0

 10

49

F

39

2760

7.36

138

100

0.06

4.0

1.1

25.0

30

5.5

 11

192

F

39

3200

7.40

136

178

0.05

18.1

0.4

9.8

n.i.

6.5

 12

60

F

41

4010

7.38

138

21

0.05

0.8

1.0

26.3

19

6.0

 13

86

F

41

3880

7.36

139

183

0.06

4.5

1.8

40.7

n.i.

n.i.

 14

146

M

40

3440

7.33

141

28

0.05

1.7

0.6

16.5

21

6.0

 15

88

F

38

3185

7.36

143

143

0.05

3.0

1.7

47.7

31

5.5

 16

252

F

41

3820

7.39

139

178

0.05

7.4

0.9

24.1

30

7.5

 17

25

M

37

2510

7.38

140

106

0.05

2.4

1.0

27.6

30

6.5

 18

85

F

40

3030

7.35

139

124

0.06

3.9

2.5

31.8

49

6.0

 19

74

M

39

3305

7.37

141

225

0.05

5.7

1.4

39.5

37

6.0

sCSD

 1

13

M

35

2850

7.04

119

< 10

0.19

17.7

< 0.1

0.6

152

8.1

 2

7

F

38

2910

7.11

123

< 10

0.16

14.2

< 0.1

0.7

190

8.6

 3

6

M

32

2190

n.i.

n.i.

n.i.

n.i.

n.i.

n.i.

n.i.

n.i.

n.i.

 4

10

F

36

2900

6.99

119

16

0.08

10.0

< 0.1

1.6

105

7.5

 5

4

F

32

2190

7.13

118

< 10

0.11

9.0

< 0.1

1.1

103

7.8

 6

98

F

37

2670

7.09

116

< 10

0.12

11.2

< 0.1

0.9

133

8.0

 7

6

F

40

2995

7.33

120

n.i.

0.06

n.i

n.i.

n.i.

100

n.i.

 8

14

F

39

3345

7.25

129

n.i.

0.07

n.i.

n.i.

n.i.

106

n.i.

 9

192

M

40

3635

n.i.

119

n.i.

0.09

n.i.

n.i.

n.i.

90

6.0

 10

180

F

39

3620

n.i.

119

n.i.

1.1

n.i.

n.i.

n.i.

86

5.5

 11

180

F

35

2540

7.22

119

n.i.

0.09

n.i.

n.i.

n.i.

90

6.0

 12

31

M

36

3130

7.27

123

n.i.

0.09

n.i.

n.i.

n.i.

56

7.0

 13

11

F

40

3050

7.21

116

n.i.

0.08

n.i.

n.i.

n.i.

66

n.i.

 14

22

F

36

3075

7.30

124

n.i.

0.08

n.i.

n.i.

n.i.

92

8.2

 15

108

M

36

2400

7.19

125

3

0.15

6.0

< 0.1

0.5

95

n.i.

 16

72

F

n.i.

n.i.

n.i.

n.i.

10

n.i.

7.0

n.i.

n.i.

119

n.i.

Patient #

Actual age (months)

Sex (m/f)

Diarrhea

Atresia

SPINT2 nucleotide alteration

Diagnosis

Non-sCSD

 1

180

M

No

Choanal

None

CA

 2

156

M

No

Choanal

None

CA

 3

84

M

No

Esophageal

None

EA IIIb

 4

480

F

No

Esophageal

None

EA

 5

96

M

No

Esophageal

None

EA IIIb

 6

108

F

No

Esophageal

None

EA IIIb

 7

184

M

No

Esophageal

None

EA

 8

158

M

No

Anal

None

AA

 9

144

F

No

Anal

None

AA

 10

49

F

No

Anal

c.598G>C het

AA

 11

192

F

No

Anal

None

AA

 12

60

F

No

Anal

None

AA

 13

86

F

No

Anal

None

AA

 14

146

M

No

Anal

c.593-1G>A het

AA

 15

88

F

No

Anal

None

AA

 16

252

F

No

Anal

None

AA

 17

25

M

No

Anal

None

AA

 18

85

F

No

Anal

None

AA

 19

74

M

No

Anal

None

AA

sCSD

 1

13

M

Yes

Choanal, corneal erosions

c.593-1G>A homozygous

 

 2

7

F

Yes

Corneal erosions

c.593-1G>A homozygous

sCSD

 3

6

M

Yes

n.i.

c.593-1G>A homozygous

 

 4

10

F

Yes

Corneal erosions

No DNA, sister of pat. 3

sCSD

 5

4

F

Yes

Choanal

c.593-1G>A homozygous

sCSD

 6

98

F

Yes

None

c.593-1G>A homozygous

sCSD, ON

 7

6

F

Yes

Choanal

c.488A>G homozygous

sCSD

 8

14

F

Yes

Choanal

c.488A>G homozygous

sCSD

 9

192

M

Yes

None?

c.488A>G homozygous

sCSD, PPN

 10

180

F

Yes

Choanal

c.488A>G homozygous

sCSD, PPN

 11

180

F

Yes

Choanal

c.337 + 2T>C/c.488A>G

sCSD, PPN

 12

31

M

yes

Choanal

c.488A>G homozygous

sCSD

 13

11

F

Yes

Choanal, anal

No DNA, sister of pat. 12

sCSD

 14

22

F

Yes

Choanal, corneal erosions

c.488A>G/c.553+2T>A

sCSD

 15

108

M

Yes

Choanal

c.488 <A>G/c.1A>T

sCSD

 16

72

F

Yes

Choanal, anal

c.488A>G homozygous

sCSD, PPN

  1. Abbreviations in alphabetical order: AA anal atresia; BW birth weight; CA choanal atresia; EA esophageal atresia; fNa fecal Na; fpH fecal pH; f female; FENa fractional excretion of sodium; GA gestational age; GIA gastrointestinal atresia; m male; mo month; n.a. not applicable; n.i. no information; ON oral nutrition; pNa plasma Na; ppH plasma pH; PPN partial parenteral nutrition; uNa urinary Na; uNa/uCrea urinary Na:urinary creatinine ratio