Table 2.
Demographic, clinical, and family characterizations of patients with specific CFTR mutation
| No of patients | Sex | Sweat chloride (meq/lit) | Pancreatic insufficiency | Age of clinical presentation onset (month) | First clinical symptom/sign | Consanguinity of parents | Mutation status |
|---|---|---|---|---|---|---|---|
| 1 | M | 110 | + | 6 | Steatorrhea/Hepatomegaly | First cousin | ΔF508/ ΔF508 |
| 2 | M | 115 | + | 5 | Steatorrhea/Cough/ Hepatomegaly |
First cousin | ΔF508/ ΔF508 |
| 3 | F | 130 | + | 2 | Steatorrhea/Cough Wheezing/Skin rash | First cousin | ΔF508/ ΔF508 |
| 4 | F | 180 | + | 1 | Steatorrhea/Cough/Vomiting/Edema/Hepatomegaly | First cousin | ΔF508/ ΔF508 |
| 5 | M | 93 | + | 3.5 | FTT/Steatorrhea | First cousin once removed | ΔF508/ ΔF508 |
| 6 | M | 100 | + | At birth | Wheezing/Meconium ileus | - | ΔF508/U* |
| 7 | M | 115 | + | 2 | Steatorrhea/Cough/Fever | First cousin once removed | ΔF508/U |
| 8 | M | 90 | + | 6 | Cough/Wheezing | - | N1303K/U |
| 9 | F | 70 | + | At birth | Meconium ileus/Crackle | First cousin | G542X/U |
| 10 | F | 80 | - | 5 | Cough/Wheezing/Fever | - | R334W/U |
| 11 | M | 109 | + | 1 | Fever/Wheezing/Cough | Second cousin | S466X/ S466X |
| 12 | M | 120 | + | 10 | Cough/Wheezing/Steatorrhea | - | S466X/U |
| 13 | M | 100 | + | At birth | Wheezing/Meconium ileus | First cousin | S466X/U |
| 14 | M | 100 | + | 5.5 | Rectal prolapse/Cough/ Wheezing/Steatorrhea | First cousin | 1677delTA/ 1677delTA |
| 15 | M | 85 | + | 3 | FTT/Sreatorrhea/Wheezing/ Cough |
First cousin | 1677delTA/ 1677delTA |
| 16 | F | 93 | + | 4 | Steatorrhea | - | 1531C/T (L467F)/U |
* Unknown mutation