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Table 1 Demographic, biochemical, and genetic characteristics of pediatric-onset (N = 31) and adult-onset (N = 203) cohorts

From: The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients

 

Pediatric-onset (N = 31)

Adult-onset (N = 203)

Fisher’s test P value

N

%

N

%

Sex M/F

26/5

83.9/16.1

174/29

85.7/14.3

0.786

Hyperuricemia/primary gout

17/14

58.1/41.9

41/162

79.8/21.2

< 0.0001

Familial occurrence

23

74.2

64

31.5

< 0.0001

Familial occurrence,

 1st degree

19

61.3

Not specified

 2nd degree

4

12.9

No treatment

15

48.4

36

17.7

< 0.0001

Allopurinol treatment

12

38.7

154

75.9

Febuxostat treatment

4

12.9

13

6.4

rs2231142

 GG

14

45.2

124

61.1

0.001

 GT

10

32.3

72

35.5

 TT

7

22.6

7

3.4

rs2231142, MAF

24

38.7

86

21.2

0.005

rs2231137, MAF **

1

1.6

7

1.7

1.000

rs769734146, MAF

1

1.6

1

0.2

0.623

rs750972998, MAF

1

1.6

0

0.0

0.278

rs199854112, MAF

1

1.6

0

0.0

0.278

 

Median (IQR)

Range

Median (IQR)

Range

Wilcoxon’s test P value

Age of onset, years

15.0 (4.0)

1–18

43.5 (24.2)

18–84

< 0.0001

Age now, years

19.0 (19.5)

3–59

55.0 (22.0)

19–90

< 0.0001

BMI now

25.1 (7.6)

16.0–41.0

29.0 (5.1)

19.5–50.0

< 0.0001

Max recorded SU, μmol/l

(N = 34/155) #

522.0 (144.0)

314–796

481.0 (101.0)

252–770

0.021

SU on treatment, μmol/l

(N = 17/176) #

419.0 (96.0)

300–608

371.5 (132.5)

252–770

0.091

FE-U on treatment

(N = 15/173) #

3.2 (1.7)

1.6–5.5

3.2 (1.7)

0.9–14.3

0.403

Treatment dose, mg *

(N = 15/168)

100 (200)

80–500

200 (200)

0–800

0.181

  1. #For some parameters, there were missing data; in case missing data amounted to 5% or more, the real N is mentioned in parentheses in the form Nadolescent/Nadult
  2. *Febuxostat dose was recomputed so that 40 mg febuxostat = 300 mg allopurinol
  3. **Of the functional ABCG2 variants explored in [15], the five mentioned in the table were present among adolescent-onset patients. The variants rs372192400, rs753759474, rs752626614, and p.S476P (not annotated) had MAF 0.0025 among adult-onset patients, and rs34783571 had MAF 0.0049 among adult-onset patients. Neither of them appeared among adolescent-onset patients (P values of the test for difference were equal to 1.000)