Skip to main content

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
  1. Abbreviations: y year(s), min minute, nk no known, atachypnea without cough, sputum, or cyanosis, brespiratory insufficiency and need of ventilation after birth, recurrent pneumothoraces during childhood, cage at genetical diagnosis, dat the age of 8 clubbing revealed, dyspnea and cough during exercise at the age of 9, erecurrent pneumonia with need of oxygen, dyspnea and fever, fwith tracheostoma, gseveral lower respiratory tract infections, clubbing revealed