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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