Table 1.
BSEP1/1 (n = 31) | p value BSEP1/1 vs. BSEP1/3∗∗ | BSEP1/3 (n = 30) | p value BSEP1/3 vs. BSEP3/3∗∗ | BSEP3/3 (n = 77) | p value Overall | |
---|---|---|---|---|---|---|
Demographics, median | ||||||
Age first visit, y [IQR] | 0.8 [0.3-1.9] | — | 1.3 [0.5-4.4] | — | 0.7 [0.3-1.9] | 0.07 |
Available, n (%) | 30 (97) | 30 (100) | 77 (100) | |||
Year of birth, [IQR] | 1992 [1987-2009] | 0.006∗ | 2001 [1995-2009] | 0.008∗ | 2009 [2002-2012] | <0.001∗ |
Available, n (%) | 31 (100) | 30 (100) | 77 (100) | |||
Females, n (%) | 16 (52) | — | 19 (63) | — | 40 (52) | 0.56 |
Available, n (%) | 31 (100) | 30 (100) | 76 (99) | |||
Laboratory data at presentation to the tertiary referral center, median [IQR] | ||||||
Serum bile acids (μmol/L) | 247 [153-378] | 0.009∗ | 459 [354-539] | <0.001∗ | 209 [151-309] | 0.002∗ |
Available n (%) | 18 (58) | 11 (37) | 44 (57) | |||
Total serum bilirubin (μmol/L) | 95 [44-180] | — | 110 [57-150] | — | 104 [53-145] | 0.99 |
Available n (%) | 26 (84) | 20 (67) | 67 (87) | |||
ALT (IU/L) | 126 [63-251] | 0.26 | 148 [92-437] | 0.19 | 293 [138-502] | 0.01∗ |
Available n (%) | 28 (90) | 18 (60) | 64 (83) | |||
AST (IU/L) | 246 [102-475] | — | 257 [128-648] | — | 359 [157-591] | 0.22 |
Available n (%) | 22 (71) | 18 (60) | 64 (83) | |||
GGT (IU/L) | 15 [10-29] | 0.07 | 22 [18-35] | 0.37 | 27 [18-38] | 0.01∗ |
Available n (%) | 26 (84) | 18 (60) | 65 (84) | |||
Platelet count, (109/L) | 397 [341-561] | — | 321 [192-468] | — | 395 [265-539] | 0.16 |
Available n (%) | 25 (81) | 18 (60) | 54 (70) | |||
Medication prior to or at moment of first presentation at the tertiary referral center, n (%) | ||||||
UDCA | 15/31 (48) | — | 11/30 (37) | — | 30/77 (39) | 0.59 |
Rifampicin | 4/31 (13) | — | 6/30 (20) | — | 19/77 (25) | 0.39 |
Phenobarbital | 4/31 (13) | — | 2/30 (7) | — | 3/77 (4) | 0.10 |
Cholestyramine | 7/31 (23) | — | 2/30 (7) | — | 8/77 (10) | 0.18 |
Antihistamines | 4/31 (13) | — | 2/30 (7) | — | 9/77 (12) | 0.94 |
ALT, alanine aminotransferase; AST, aspartate aminotransferase; BSEP, bile salt export pump; GGT, gamma-glutamyltransferase; UDCA, ursodeoxycholic acid. Genotypic categorization clarified in Methods.
Mann-Whitney U, Kruskal-Wallis test, Chi-squared test or Fisher’s exact test as appropriate, to test differences between the three groups.
A p value of <0.05 is considered statistically significant.
Subgroup statistics only performed at overall p value <0.05.