Table 1 Clinical characteristics, diagnostic work-up and treatment of the study population
| Â | Case 1 (male) | Case 2 (male) | Case 3 (female) | Case 4 (female) | Case 5 (male) | Case 6 (male) | Case 7 (male) | Case 8 (female) | Case 9 (female) |
|---|---|---|---|---|---|---|---|---|---|
Diagnosis at referral | Chronic dry cough Atopic asthma RP ML atelectasis | Chronic dry cough RP | Chronic dry cough RP ML atelectasis | Chronic dry cough RP Segmental atelectasis | Chronic dry cough RP | Chronic dry cough RP | Chronic dry cough Non atopic asthma | Chronic dry cough RP | Chronic dry cough Atopic asthma RP PM |
Treatment at referral | Antibiotics Chest PT Antiasthma | Antibiotics | Antibiotics Chest PT | Antibiotics | Antibiotics | Antibiotics | Antibiotics Antiasthma | Antibiotics | Antibiotics Antiasthma |
Age at onset (years) | 0.6 | 1.5 | 3 | 1 | 2 | 0.08 | 13 | 0.4 | 4 |
Age at AIA diagnosis (years) | 6 | 4 | 7 | 4 | 5 | 8 | 13 | 6 | 14 |
Whole diagnostic work-upa | Spirometry; FeNO; nNO/NB; ST/CFTR; sIg/vaccines response; Chest X-ray/CT AE | NB; ST/CFTR; sIg/vaccines response; Chest X-ray/CT | Spirometry; FeNO; nNO/NB; ST/CFTR; sIg/vaccines response; Chest X-ray/CT AE | NB; ST/CFTR; sIg/vaccines response; Chest X-ray/CT AE | NB; ST/CFTR; sIg/vaccines response; Chest X-ray/CT MII-pH | Spirometry; FeNO; nNO/NB; ST/CFTR; sIg/vaccines response; Chest X-ray/CT | Spirometry FeNO; nNO ST/CFTR;sIg/vaccines response; MII-pH Chest MRI | Spirometry; FeNO; nNO/NB; ST/CFTR; sIg/vaccines response; Chest X-ray/CT | Spirometry; FeNO; nNO/NB; ST/CFTR; sIg/vaccines response; Chest X-ray/CT MII-pH AE |
AIA treatment | Aortopexy | Conservative | Aortopexy | Tracheopexy | Conservative | Conservative | Conservative | Conservative | Tracheopexy |
Current symptoms | None | None | None | None | None | None | None | None | None |