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Table 1 General clinical characteristics of the patientsa

From: Cystinosis beyond kidneys: gastrointestinal system and muscle involvement

Pt No

Age (years)

Sex

Age at Dx (months)

RF Stage /RRT

GOR

HM

SM

Granularity of liver

Increased portal flow

Endoscopy

CK (U/L)

(Ref; 0–100)

LCL

CTNS mutation

1

9

F

11

2

N/A

85

1.39

c.829 dup (p.Thr277Asnfsa19)/ 518A > G (pY173C)

2

9

M

12

4

+

+

N/A

53

2.06

N/A

3

15

F

14

5,Tx

+

+

+

+

N/A

42

3.06

c.681G > A (p.Glu227Glu)/ c.1015G > A (p.Gly339Arg)

4

11

M

10

5,PD

+

+

+

+

N/A

9024

1.05

c.18_21 del (p.Thr7PhefsTer7) (H)

5

13

M

15

GFR > 90

N/A

71

2.67

c.451A > G (p.Arg151Gly)/

c.1015G > A (p.Gly339Arg)

6b

16

M

24

5,Tx

N/A

87

1.5

c.1015G > A (p.Gly339Arg) (H)

7b

6

F

16

2

N/A

78

4.1

c.1015G > A (p.Gly339Arg) (H)

8

16

F

12

2

+

+

+

+

Salt and pepper appearance in antrum

42

.64

c.518A > G (pY173C) (H)

9

8

M

54

3

+

+

N/A

119

1.67

c.140 + 1G > T (H)

10

9

F

60

5,Tx

+

+

N/A

60

3.62

c.664C > T (p.Gln222X) (H)

11

16

M

12

5,HD

+

+

+

+

N/A

46

4.90

c.62-1083_c.551del10217 (H)

12

21

M

12

5,PD

+

+

+

+

Portal gastropathy, bile reflux

97

1.5

c.140 + 1G > T (H)

13

15

M

18

5,Tx

N/A

+

+

+

N/A

55

4.20

c.1015G > A (p.Gly339Arg) (H)

14

15

M

168

2

+

+

+

+

+

N/A

61

8.30

c.451A > G (p.Arg151Gly) (H)

15

4

M

48

2

+

+

+

N/A

73

4.2

c.18_21 del (p.Thr7PhefsTer7) (H)

16c

5

F

18

GFR > 90

+

N/A

59

2.63

N/A

17c

1

M

5

GFR > 90

N/A

N/A

N/A

N/A

N/A

N/A

127

1.85

N/A

18

29

F

106

5,Tx

+

+

+

+

N/A

37

1.12

N/A

19

4

M

54

3

+

+

+

+

+

Normal

86

15.75

c.681G > A (p.Glu227Glu) (H)

20

10

M

14

5,PD

+

+

+

+

Edema in corpus, antrum

217

2.82

c.141-22A > G (H)

21

6

M

12

2

N/A

N/A

N/A

N/A

N/A

46

3.8

c.681G > A (p.Glu227Glu) (H)

  1. aAll of the patients had period(s) without cysteamine treatment
  2. bPt. number 6 and 7 are siblings
  3. cPt. number 16 and 17 are siblings
  4. Abbreviations: CK creatine kinase, Dx diagnosis, F female; GOR gastroesophageal reflux, H homozygous, HD hemodialysis, HM hepatomegaly, M male, N/A not available, LCL Leukocyte cystine level (nmol half-cystine/mg.protein) (reference range: < 0.2), PD peritoneal dialysis, Pt patient, RF renal failure, RFT respiratory function test, RRT renal replacement therapy, SM splenomegaly, Tx transplantation