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Table 4 Other manifestations of the GAUCHERITE cohort and subgroups at recruitment

From: In-depth phenotyping for clinical stratification of Gaucher disease

Variables

Categories*

Entire cohort (N = 250) [%]

Children

(N = 26) [%]

Adults

(N = 224) [%]

Gaucher Type 1 (N = 223) [%]

Gaucher Type 3 (N = 27) [%]

Gallstones

Yes

79 [32]

1 [4]

78 [35]

75 34]

4 [15]

Age at diagnosis, years, mean ± SD

41 ± 13

16 ± 0

42 ± 12

42 ± 12

35 ± 19

Median (range)

40 (11–66)

16 (16)

40 (11–66)

40 (11–66)

35 (16–55)

Age unknown

5

–

5

5

–

No

171 [68]

25 [96]

146 [65]

148 [66]

23 [85]

Path to diagnosis of gallstones

Incidental

43 [54]

1 [100]

42 [54]

40 [53]

3 75]

Symptoms prompted investigations

32 [41]

–

32 [41]

31 [41.5]

1 [25]

Unknown

4 [5]

–

4 [5]

4 [5.5]

–

Cholecystectomy

Yes

37 [15]

1 4]

36 [16]

35 [16]

2 [7]

Age at cholecystectomy, years,

39 ± 13

16 ± 0

39 ± 12

39 ± 12

35 ± 28

mean ± SD

     

Median (range)

37 (16–69)

16

37 (18–69)

37 (18–69)

35 (16–55)

Missing age

1

–

1

1

–

No

213 [85]

25 [96]

188 [84]

188 [84]

25 [93]

Cancer

Yes

23 [9]

–

23 [10]

23 [10]

–

Haematological

4

–

4 (17%)

4 (17%)

–

Non-haematological

19

–

19 (83%)

19 (83%)

–

Age at diagnosis, years, mean ± SD

59 ± 15

–

58 ± 15

59 ± 15

–

Median (range)

62 (18–83)

–

62 (18–83)

62 (18–83)

–

No

227 [91]

26 [100]

201 [90]

200 [90]

27 [100]

Hepatic

Disease

Yes

14 [6]

–

14 [6]

9 [4]

5 [19]

Age at diagnosis, years, mean ± SD

40 ± 17

–

40 ± 17

47 ± 12

27 ± 18

Median (range)

41 (6–75)

–

41 (6–75)

45 (37–75)

24 (6–55)

No

236 [94]

26 [100]

210 [94]

214 [96]

22 [81]

Pulmonary disease

Yes

29 12]

8 31]

21 [9]

7 [3]

22 [81.5]

Age at diagnosis, years, mean ± SD

19 ± 22

5 ± 2

24 ± 24

39 ± 28

12 ± 15

Median (range)

8 (1–72)

5 (2–9)

14 (1–72)

51 (4–72)

6 (1–57)

No

221 [88]

18 [69]

203 [91]

216 [97]

5 [18.5]

  1. SD standard deviation
  2. *Continuous variables are expressed as mean ± SD and median (range)