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) |