Table 3.
Data regarding the patients evaluated for the HSD17B13:TA variant
|
|
All
|
HSD17B13 genotype
|
||
|
T/T
|
TA/T
|
TA/TA
|
||
| n (%) | 33 | 19 (57.58) | 12 (36.36) | 2 (6.06) |
| Females, n (%) | 16 | 11 | 5 | 0 |
| Mean age (yr) | 11.67 ± 3.12 | 11.09 ± 3.45 | 12.14 ± 2.25 | 14.70 ± 3.24 |
| Clinical presentation, n (%) | ||||
| ALF and/or hemolytic anemia | 7 (21.21) | 5 (71.43) | 2 (28.57) | 0 |
| Less severe hepatic forms | 26 (78.79) | 14 (53.85) | 10 (38.46) | 2 (7.69) |
| ATP7B variant | ||||
| p.His1069Gln (c.3206A>G)/p.His1069Gln (c.3206A>G) | 5 | 2 | 3 | 0 |
| p.His1069Gln (c.3206A>G)/p.Gly1341Asp (c.4021G>A) | 6 | 3 | 3 | 0 |
| p.His1069Gln (c.3206A>G)/other | 7 | 4 | 3 | 0 |
| p.Gly1341Asp (c.4021G>A)/p.Gly1341Asp (c.4021G>A) | 7 | 3 | 2 | 2 |
| p.Trp939Cys (c.2817G>T)/p.Trp939Cys (c.2817G>T) | 4 | 4 | 0 | 0 |
| p.Trp939Cys (c.2817G>T)/other | 1 | 1 | 0 | 0 |
| p.Lys844Ter (c.2530A>T)/p.Lys844Ter (c.2530A>T) | 1 | 1 | 0 | 0 |
| p.Lys844Ter (c.2530A>T)/ other | 2 | 1 | 1 | 0 |
ALF: Acute liver failure.