Table 1. Patient Characteristics.
| Variable | All (N=204) N (%) |
Untreated (N=161) N (%) |
Treated* (N=43) N (%) |
Matched Untreated (N=43) N (%) |
|---|---|---|---|---|
| Females | 98 (48.0) | 72 (44.7) | 26 (60.5) | 26 (60.5) |
| Males | 106 (52.0) | 89 (55.3) | 17 (39.5) | 17 (39.5) |
| Born on or After 1986 | 136 (66.7) | 93 (57.8) | 43 (100.0) | 43 (100.0) |
| Born on or After 1991 | 118 (57.8) | 75 (46.6) | 43 (100.0) | 43 (100.0) |
| Known Genotype | 105 (51.5) | 62 (38.5) | 43 (100.0) | 24 (55.8) |
| Continent | ||||
| Africa | 10 (4.9) | 5 (3.1) | 5 (11.6) | 1 (2.3) |
| Asia | 37 (18.1) | 30 (18.6) | 7 (16.3) | 9 (20.9) |
| Australia | 2 (1.0) | 2 (1.2) | 0 (0.0) | 0 (0.0) |
| Europe | 45 (22.1) | 35 (21.7) | 10 (23.3) | 11 (25.6) |
| North America | 78 (38.2) | 63 (39.1) | 15 (34.9) | 12 (27.9) |
| South America | 32 (15.7) | 26 (16.2) | 6 (14.0) | 10 (23.3) |
| Mutation Subgroup** | ||||
| c.1824 C>T; p.G608G | 89 (84.8) | 50 (80.6) | 39 (90.7) | 18 (75) |
| c.1822 G>A, p.G608S | 5 (4.8) | 3 (4.9) | 2 (4.7) | 1 (4.2) |
| Intron 11, c.1968+1 G>C | 2 (1.9) | 2 (3.3) | 0 (0.0) | 1 (4.2) |
| Intron 11, c.1968+1 G>A | 5 (4.8) | 4 (6.6) | 1 (2.3) | 2 (8.3) |
| Intron 11, c.1968+2 T>A | 2 (1.9) | 2 (3.3) | 0 (0.0) | 1 (4.2) |
| Intron 11, c.1968+2 T>C | 1 (1.0) | 1 (1.6) | 0 (0.0) | 1 (4.2) |
| Intron 11, c 1968+5 G>C | 1 (1.0) | 0 (0.0) | 1 (2.3) | 0 (0.0) |
*
There were no significant differences when comparing treated versus matched untreated cohorts for sex, continent of origin, birth year or known mutation subgroups.
**
Percentages of known mutations