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Table 6 The relationship between the pathogenic variant classes and clinical characteristics in CF patients in the studied sample

From: A retrospective study of cases diagnosed with cystic fibrosis at a single care center in Syria

N=85

Two-class (IV/V) pathogenic variants

N=9

One-class (I) pathogenic variant + one-class (IV/V) pathogenic variant

N=5

*Two pathogenic variants of different classes of I, II, III

N=6

** Two class II pathogenic variants

N=10

***Two class II pathogenic variants

N=36

Two class I pathogenic variants

N=19

Mean age at diagnosis (months)

N=14

N=71

18.1±32.6

5.6±4.6

15.1±32.5

16.3±34.6

18.3±34.1

15±25.5

Mortality

N=0 (0%)

N=1 (10%)

N=1 (16.7%)

N=4 (40%)

N=14 (38.9%)

N=6 (31.6%)

N=1 (7.1%)

N=25 (35.2%)

Mean age at onset of gastrointestinal symptoms (months)

5.6±10.3

1.2±1.8

No symptoms

9.7±18.8

2.2±2.3

1.2±1.6

Chronic diarrhea

N=4 (44.4%)

N=2 (40%)

N=0 (0%)

N=4 (40%)

N=14 (38.9%)

N=10 (52.6%)

N=6 (42.8%)

N=28 (39.4%)

Meconium ileus

N=1 (11.1%)

N=1 (10%)

N=0 (0%)

N=5 (50%)

N=7 (19.4%)

N=9 (47.4%)

N=2 (14.3%)

N=21 (29.6%)

Liver disease

N=1 (11.1%)

N=2 (40%)

N=1 (16.7%)

N=1 (10%)

N=10 (27.8%)

N=7 (36.8%)

N=3 (21.4%)

N=19 (26.8%)

Steatorrhea

N=1 (11.1%)

N=0 (0%)

N=0 (0%)

N=3 (30%)

N=11 (30.5%)

N=13 (68.4%)

N=1 (7.1%)

N=27 (38%)

Mean age at onset of respiratory disease (months)

7.2±9.3

4.9±4.4

5.7±6

3±2.1

2.9±2.3

15±26

Recurrent respiratory infections

N=2 (22.2%)

N=3 (60%)

N=3 (50%)

N=4 (40%)

N=15 (41.7%)

N=6 (31.6%)

N=5 (35.7%)

N=28 (39.4%)

Bronchitis

N=2 (22.2%)

N=2 (20%)

N=1 (16.7%)

N=6 (60%)

N=8 (22.2%)

N=7 (36.8%)

N=4 (28.6%)

N=22 (31%)

Failure to thrive

N=5 (55.5%)

N=2 (40%)

N=3 (50%)

N=6 (60%)

N=20 (55.5%)

N=13 (68.4%)

N=7 (50%)

N=42 (59.1%)

The average length of hospital stay

17.7±11.8

10.2±9.9

14±9

13.2±3.3

19±14.1

16.3±9.7

  1. *F508del+N1303K, CFTRdel2-3 +G551D,2183 AA>G+N1303K, F508del+W1282X
  2. **Pathogenic substitution variants
  3. ***Pathogenic deletion variants