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 |