Table 1 Chitotriosidase activity in control groups and cystinotic patients

All normal controls

87

1-48 (12)

0-90 (18)

  Pediatric normal controls

54

1-16 (4.8)

0-72 (14)

  Adult normal controls

33

22-48 (36)

0-90 (31)

<0.001 with pediatric normal controls

All renal controls

54

2-58 (22)

0-321 (52)

<0.001 with all normal controls

  Pediatric renal controls

24

2-12 (4.6)

2-144 (39)

<0.001 with pediatric normal controls

   Fanconi syndrome

12

2-5 (3)

5-44 (19)

0.60 with pediatric normal controls

   ESRD

12

2-12 (6)

2-144 (67)

<0.001 with pediatric normal controls

<0.001 with pediatric Fanconi syndrome

  Adult renal controls

30

19-58 (38)

0-321 (73)

<0.001 with adult normal controls

   Microalbuminuria

15

26-46 (32)

8-143 (60)

0.008 with adult normal controls

   ESRD

15

19-58 (41)

0-321 (87)

<0.001 with adult normal controls

0.40 with diabetic nephropathy

All controls with ESRD

27

2-58 (22)

0-321 (75)

All controls below 5 years

39

0.5- 4.5 (2.2)

0-49 (15)

Cystinosis patients

45

0.8-49 (13)

0-3880 (163)

<0.001 with all normal controls

<0.001 with all renal controls

  All pediatric patients

25

0.8-16 (3.8)

0-3880 (268)

<0.001 with pediatric normal controls

<0.001 with pediatric renal controls

  All adult patients

20

18-49 (28)

0-1487 (78)

<0.001 with adult normal controls

0.44 with adult renal controls

  Cysteamine treated patients

   Cystine* <1

11

17-49 (34)

18-342 (52)

0.71 with all renal controls

   Cystine* >1 and <4

13

2-38 (24)

0-843 (245)

0.006 with all renal controls

   Cystine* >4

12

3.5-36 (10.5)

84-1487 (788)

<0.001 with all renal controls

Cystinosis patients with ESRD

5

8-24 (12)

899-3880 (1346)

0.002 with all controls with ESRD

Newly diagnosed patients

9

0.8-2.7 (1.6)

0-288 (122)

<0.001 with all controls <5 years