Table 3.
Characteristics of patients with surfactant disorders
| Patient number | Sex | Age at diagnosis (years) | Follow up (years) | Surfactant disorder | Mutation |
|---|---|---|---|---|---|
| 1* |
M |
0.3 |
2.9 |
SP-C |
c.424delC |
| 2* |
M |
0.4 |
3.6 |
SP-C |
c.566 G > A (C189Y) |
| 3* |
F |
0.3 |
3.8 |
SP-C |
c.566 G > A (C189Y) |
| 4* |
M |
0.2 |
1.4 |
SP-C |
c.325-1 G > A |
| 5* |
M |
2.4 |
0.4 |
SP-C |
c.218 T > C (I73T) |
| 6* |
F |
5.8 |
0 |
SP-C |
c.218 T > C (I73T) |
| 7* |
F |
1.6 |
2.4 |
SP-C |
c.218 T > C (I73T) |
| 8* |
F |
0.4 |
1.4 |
SP-C |
c.218 T > C (I73T) |
| 9* |
F |
1.2 |
1.2 |
SP-C |
c.218 T > C (I73T) |
| 10* |
M |
0.8 |
2.5 |
SP-C |
c.218 T > C (I73T) |
| 11* |
F |
0.3 |
4.2 |
SP-C |
c.218 T > C (I73T) |
| 12* |
F |
0 |
1.8 |
SP-C |
c.218 T > C (I73T) |
| 13* |
M |
1.6 |
md |
SP-C |
c.218 T > C (I73T) |
| 14* |
M |
0.7 |
4.2 |
SP-C |
c.218 T > C (I73T) |
| 15* |
M |
2.2 |
3.1 |
SP-C |
c.218 T > C (I73T) |
| 16* |
F |
0.2 |
6.2 |
SP-C |
c.218 T > C (I73T) |
| 17* |
F |
2.7 |
11.7 |
SP-C |
c.218 T > C (I73T) |
| 18* |
F |
0.5 |
12.4 |
SP-C |
c.218 T > C (I73T) |
| 19* |
M |
0.4 |
6.6 |
SP-C |
c.218 T > C (I73T) |
| 20* |
M |
0.3 |
2.4 |
SP-C |
c.581 T > C (L194P) |
| 21* |
M |
8.5 |
0 |
SP-C |
c.563 T > C (L188P) |
| 22* |
F |
0.4 |
17.2 |
SP-C |
c.116 T > C (V39A) |
| 23 |
M |
0 |
0.1 |
SP-B |
g.1549 C > GAA (121ins2) −/− |
| 24 |
M |
0 |
0.1 |
SP-B |
g.1549 C > GAA (121ins2) −/− |
| 25 |
M |
0.2 |
0 |
SP-B |
g.1549 C > GAA (121ins2) −/− |
| 26 |
F |
0 |
0.2 |
SP-B |
g.1549 C > GAA (121ins2) −/− |
| 27 |
M |
0.1 |
0 |
SP-B |
c.496delG −/− |
| 28 |
M |
0 |
0.1 |
SP-B |
Y253X −/− |
| 29 |
F |
0 |
0.2 |
SP-B |
672 + 2del5 −/− |
| 30* |
F |
0 |
9.2 |
ABCA3 |
c.3518 C > G (T1173R) −/− |
| 31* |
M |
0.3 |
10.9 |
ABCA3 |
c.757 G > C (D253H) −/− |
| 32* |
F |
2.3 |
MD |
ABCA3 |
c.3518 C > G (T1173R) −/− |
| 33* |
M |
0.3 |
3.4 |
ABCA3 |
P585 −/− |
| 34* |
F |
12.3 |
3 |
ABCA3 |
c.3518 C > G (T1173R) −/− |
| 35* |
F |
0.1 |
4.8 |
TTF1 |
c.786_787del2 (p.L263fs) |
| 36* |
F |
0.1 |
1.5 |
TTF1 |
c.493 C > T(R165W) |
| Sex ratio 1 | Median 0.3 | Median 2.4 |
* Published patients.
Abbreviations: M: male. F: female. MD: missing data.