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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
  1. *>< ref. range; ameasurement with febuxostat therapy 80 mg/per day; bmeasurement with allopurinol therapy 150 mg/per day; SU < 15 years and female 120–340 μmol/l, male 120–416 μmol/l; FE-U < 13 years 5–20%, male 5–12%, female 5–15%; U-U < 15 years 0.1–1.0 mmol/mol creatinine, > 15 years 0.1–0.8 mmol/mol creatinine