Table 2 Pulmonary signs and symptoms at diagnosis and last follow-up
From: Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Mean (range) or distribution (range)/ | |
|---|---|---|---|---|---|---|---|
Age [y] at start of lung symptoms | 12a | 2b | 9d | 0.8e | 2 | 7g | 5.5 (0.8-12) |
Age [y] at clinical diagnosis/ last follow-up | 12/ 17 | 9c/ 14 | 13/ 19 | 2/ 4 | 2/ 6 | 15/ 15 | 8.83 (2-15)/12 (4-19) |
Dyspnea at diagnosis/ last follow-up | yes/ yes | no/ no | no/ during exercise | no/ recurrent | no/yes1 | recurrent | 1/ 5 |
Tachypnea at diagnosis/ last follow-up | no/ yes (32/min) | no/ no (16/min) | no/ no | no/ yes | no/ no | no/ no | 0/ 2 |
Coughing at diagnosis/ last follow-up | yes/ yes | no/ no | no/ during exercise | no/ no | no/ yes | no/ no | 1/ 3 |
Pneumothorax at diagnosis/ during course | no/ no | no/ yes (pleurodesis at age 12 y) | no/ yes (pleurodesis at age 15 y) | no/ no | no/ yes | no/ no | 0/ 3 |
Clubbing at diagnosis/ last follow-up | no/ no | yes/ yes | yes/ yes | no/ no | nk/ nk | yes/ yes | 3/ 3 |
Thoracic scoliosis at diagnosis/ last follow-up | no/ yes (since age 15 y) | yes/ yes (operative correction) | no/ yes (since age 13 y) | no/ no | yes/ yes | no/ no | 2/ 4 |
Need for oxygen at diagnosis/ last follow-up | no/ no | no/ yes (night time) | no/no | no/ recurrent | yes/yesf | no/ no | 1/ 3 |