NBS children (n = 72) | Non-NBS individuals (n = 112) | |||
Asymptomatic (No. of individuals) | CF/CFTR-RD symptoms (No. of individuals) | Asymptomatic (No. of individuals) | CF/CFTR-RD symptoms (No. of individuals) | |
R117H;T7 (n = 166) | 47 | 14: | 7 | 98: |
– 1 classical CF | – 1 severe DB +CRS +CBAVD | |||
– 3 moderate pulmonary + nasopharyngeal | – 1 severe DB+CRS | |||
– 7 moderate pulmonary | – 2 DB+CBAVD | |||
– 3 nasopharyngeal | – 2 DB | |||
– 7 moderate pulmonary+CRS+CBAVD | ||||
– 9 moderate pulmonary+CBAVD | ||||
– 4 moderate pulmonary+CRS | ||||
– 1 moderate pulmonary+pancreatic+CBAVD | ||||
– 7 moderate pulmonary | ||||
– 6 CRS+CBAVD | ||||
– 3 pancreatic+CBAVD | ||||
– 1 CRS | ||||
– 2 pancreatic | ||||
– 52 isolated CBAVD | ||||
R117H;T5 (n = 7) | 2 | 1: | 1 | 3: |
– 1 nasopharyngeal | – 1 severe DB+CRS | |||
– 1 moderate pulmonary | ||||
– 1 isolated CBAVD | ||||
R117H;T?‡ (n = 11) | 6 | 2: | 1 | 2: |
– 1 moderate pulmonary | – 2 isolated CBAVD | |||
– 1 pancreatic | ||||
Total | 55 | 17 | 9 | 103 |
CBAVD, congenital bilateral absence of vas deferens; CRS, chronic rhinosinusitis; DB, disseminated bronchiectasis; NBS, newborn screened; Non-NBS, non-newborn screened (individuals who were not referred through newborn screening); R117H;T?, cases where the poly(T) variant was not determined or documented.