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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