Table 2 Demographic, biochemical, and genetic characteristics of pediatric-onset patients with non-synonymous ABCG2 variants (N = 19) and reference sequence of ABCG2 (N = 12)
From: The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients
Age of onset/measurement | Sex | Hyperuricemia | Gout | ABCG2 | Familiarity | BMI | Metabolic syndrome | SU | FE-U | U-U | u-Hypoxanthine | u-Xanthine |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Year | Evidence | aa | Affected family members | Number of criteria | Ref. ranges ≤ 30 | Ref. ranges ≤ 25 | ||||||
μmol/L | % | mmol/mol creatinine | ||||||||||
17/21 | M | Yes | No | p.[Q141K];[Q141K] | – | 23 | 0 | 507 | *4.7 | 0.2 | 3.5 | 2.1 |
16/31 | M | Yes | Yes | p.[Q141K];[Q141=] | Pat. grandfather | 39** | 2 | 796 | *2.0 | 0.16 | 2.5 | 9.8 |
18/40 | F | Yes | Yes | p.[V12M];[V12=] | Father | 21 | 0 | 546 | *2.6 | 0.17 | 4.1 | 14.2 |
18/59 | M | Yes | Yes | p.[Q141K];[Q141=] | Mother | 30** | 1 | 492 | 5.2 | 0.33 | 15.4 | 10.2 |
16/17 | M | Yes | Yes | p.[Q141K];[Q141=] | Two brothers, pat. grandfather | 22 | 0 | 540 | *2.5 | 0.2 | 11.7 | 8.6 |
14/15 | F | Yes | No | p.(Q141K)(;)(T434M) | – | 24 | 0 | 495 | *3.2 | 0.28 | 2.1 | 3.2 |
8/54 | M | Yes | Yes | p.[Q141K];[Q141K] | Brother, father, pat. grandfather | 41** | 2 | 514 | 5 | 0.31 | 2.9 | 2.3 |
18/37 | M | Yes | Yes | p.(Q141K)(;)(K360del) | – | 30** | 2 | 627 | 5 | 0.3 | 5.5 | Under limit |
13/14 | M | Yes | Yes | p.[Q141K];[Q141=] | Father, pat. grandfather | 24 | 1 | 621 | *4.8 | 0.48 | 13.5 | 3.6 |
15/15 | M | Yes | No | p.[Q141K];[Q141K] | Father | 18 | 0 | 522 | *3.9 | 0.3 | 13.5 | 8.2 |
15/39 | M | Yes | Yes | p.[Q141K];[Q141=] | n/a | 30** | 2 | 670 | *2.5 | *0.09 | 24.3ª | 49.9*ª |
17/18 | M | Yes | No | p.[T421A];[T421=] | Father | 24 | 1 | 420 | *3.9 | 0.15 | 2.4 | Under limit |
16/18 | M | Yes | Yes | p.[Q141K];[Q141K] | – | 27* | 2 | 655 | *4.3 | 0.35 | 1.2 | 2 |
6/11 | F | Yes | No | p.[Q141K];[Q141=] | Mother, mat. grandmother | 26* | 1 | 430 | *2.1 | 0.19 | 6.9 | 6.6 |
18/19 | M | Yes | No | p.[Q141K];[Q141=] | Mother, mat. uncle | 25 | 1 | 439 | *4.9 | 0.27 | 5.4 | 2.9 |
12/12 | F | Yes | No | p.[Q141K];[Q141=] | Brother, mother | 30** | 1 | 473 | *2.3 | 0.29 | 5.4 | 6.5 |
14/14 | M | Yes | No | p.[Q141K];[Q141K] | Father | 22 | 0 | 465 | 6 | 0.31 | 15.3 | 27.5 |
13/14 | M | Yes | Yes | p.[Q141K];[Q141K] | Mother | 21 | NA | 506 | *3.0 | 0.23 | 3.2 | 3.1 |
18/19 | M | Yes | No | p.[Q141K];[Q141K] | Pat. grandmother | 26* | 1 | 730 | 5.5 | 0.35 | 3.4 | 2.8 |
11/20 | M | Yes | No | No allelic variants | Mother | 28* | 0 | 662 | *2.6 | 0.18 | 17 | 11.2 |
14/19 | M | Yes | No | No allelic variants | – | 27* | 2 | 631 | *2.0 | 0.17 | 13.1 | 18.4 |
1/3 | F | Yes | No | No allelic variants | Mother | 16 | 0 | 522 | *2.6 | 0.47 | 9.4 | 8.7 |
15/21 | M | Yes | No | No allelic variants | Pat. grandmother | 35** | 1 | 524 | *3.8 | 0.17 | 20.1b | 26.1*b |
10/11 | M | Yes | No | No allelic variants | Brother, father | 20 | 0 | 384 | *4.0 | 0.56 | 79*a | 120*a |
13/14 | M | Yes | No | No allelic variants | Brother, father | 24 | 0 | 435 | *3.7 | 0.23 | 7.8 | 4.7 |
12/57 | M | Yes | Yes | No allelic variants | Son, father, pat. grandfather | 37** | 2 | 442 | *3.5 | 0.18 | 2.9 | 1.1 |
13/24 | M | Yes | No | No allelic variants | Father, pat. grandfather and great-gr. | 24 | 0 | 576 | 5.1 | 0.32 | 2 | Under limit |
17/18 | M | Yes | Yes | No allelic variants | – | 25 | 0 | 436 | 7.3 | 0.28 | 10 | 2.5 |
18/48 | M | Yes | Yes | No allelic variants | – | 26* | 1 | 487 | 7.2 | 0.44 | 9.9 | 2.6 |
13/15 | M | Yes | No | No allelic variants | Pat. and mat. grandfather | 18 | 0 | 630 | *2.9 | 0.46 | 3 | 4.3 |
18/45 | M | Yes | Yes | No allelic variants | Brother, father | 30** | 3 | 610 | 5.0 | 0.35 | 1.7 | 1.2 |