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Table 3 Lung function measurements, lung biopsy results, treatments, and overall outcome

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 (n) or distribution
Age [y] at first / last lung function 12 / 17 nd (psychomotor retardation) 9 / 19 nd (too young) nd (psychomotor retardation) 8/15 9.67 / 17 (3)
FEV1 [% predicted] first / last 74 / 71   82 / 66    63/73 73 / 70 (3)
FVC [% predicted] first / last 65 / 70   93 / 59    62/67 73.34 / 65.34 (3)
TLC [% predicted] nd / 80   74 / 72     
DLCO [% predicted] (age at DLCO) 63 (15 y)/ 68 (17 y)   69 (15 y)/ 71 (19 y)     67.75 (4)
Lung biopsy nd cNSIP, UIP-like, DIP UIP-like nd nd cNSIP, DIP, lymphofollicular hyperplasia 3 biopsies
Chronic antibiotic treatment Co-trimoxazole Azithromycin no Azithromycin Azithromycin no 4/6
G-CSF s.c. yes yes no yes yes yes 5/6
Pirfenidone treatment yes (started age 13 for 30 months) no yes (age 15 for 3 months) no no no 2/6
Age last follow-up [y] 17 14 19 3.7 6 15 12.45 (range 3.7-19)
Overall outcome sick-better sick-same sick-same sick-same died sick-same 4 sick-same, 1 sick-better, 1 died
  1. Abbreviations: y year(s), FEV1 forced expiratory volume of first second, FVC forced vital capacity, TLC total lung capacity, DLCO diffusing capacity of the lung for carbon monoxide, cNSIP cellular non-specific interstitial pneumonitis, nd not done, UIP-like usual interstitial pneumonia- like features, DIP desquamative interstitial pneumonitis, G-CSF granulocyte-colony stimulating factor