Table 1 Phenotypic features, values of the sweat tests and the genotypes of the cases examined in this study
From: Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka
Case number | Age at diagnosis | Consan-guinity | Phenotype | Sweat test (mmol/L) | Genetic studies | CFTR Genotype |
|---|---|---|---|---|---|---|
Case 1 | 3.5 months | no | Recurrent LRTI (left lobe collapse), FTT, Pseudo-Bartter syndrome | NaCl = 116 Cl− = not done | ARMS-PCR and RFLP, Gene sequencing | ƍf508/[C.1282C > G; C.2738A > G] |
Case 2 | 6.5 months | no | Recurrent LRTI, right upper lobe collapse with basal emphysema. nasopharyngeal aspirate yielded Pseudomonas, steatorrhoea, FTT | sweat volume was inadequate | ARMS-PCR and RFLP | ƍF508/unknown |
Case 3 | 6 months | no | Recurrent LRTI, Pseudomonas septicaemia, FTT, hypokalaemia | NaCl = 98 Cl− = not done | ARMS-PCR and RFLP | Negative for the common 8 mutations in India |
Case 4 | 12 months | no | Recurrent LRTI, Pseudo-Bartter syndrome, nasopharyngeal aspirate yielded mixed growth of Pseudomonas and coliform, FTT | NaCl = 72 Cl− = not done | ARMS-PCR and RFLP | ƍf508/unknown |
Case 5 | 3 years | no | Pseudo-Bartter syndrome, recurrent LRTI, FTT | NaCl = 126 Cl− = 90 | ARMS-PCR and RFLP | Negative for the common 8 mutations in India |
Case 6 | 3.5 months | yes | Chronic LRTI, needed mechanical ventilation, FTT, respiratory secretions yielded Pseudomonas | NaCl = 130 Cl− = 103 | Gene sequencing | 1161delC/1161delC |
Case 7 | 2.5 months | no | Recurrent LRTI, cyanosis and oxygen dependancy, hyponatraemia, FTT | NaCl = 105 Cl− = 83 | ARMS-PCR and RFLP | Negative for the common 8 mutations in India |
Case 8 | 10 years | no | Pseudo-Bartter syndrome, recurrent LRTI, gall stones, sputum culture is positive for Pseudomonas | NaCl = 107 Cl− = 96 | ARMS-PCR and RFLP, Gene sequencing | 185 + 1G- > T/[C.1282C > G; C.2738A > G] |
Case 9 | 22 years | no | Bronchiectasis, Pseudo-Bartter syndrome, BMI = 16.6 Kg/m−2 (underweight = < 18.5 Kg/m− 2) | NaCl = 82 Cl− = 58 | Gene sequencing | V456A/ V456A |
Case 10 | 4 months | no | FTT, steatorrhoea, chronic LRTI, sputum positive for Pseudomonas, Pseudo-Bartter syndrome | NaCl = 63 Cl− = 37 | Gene sequencing | 2184insA/CFTRdele4–11 |