Table 1 Clinical findings of patients with nephropathic cystinosis
Patient /sex | Age in years | Consanguineous marriage | Onset age in months | Age at diagnosis in months | Fanconi syndrome | Rickets | Hypothyroidism | Corneal crystals | Renal transplantation |
|---|---|---|---|---|---|---|---|---|---|
P1/M | 12 | + | 5 | 6 | + | − | − | + | − |
P2/M | 9 | + | 18 | 18 | + | + | + | + | − |
P3/M | 7 | + | 12 | 13 | + | + | − | + | − |
P4/M | 10 | + | 10 | 11 | + | + | − | + | + (7 years) |
P5/F | 16 | + | 7 | 8 | + | + | + | + | + (8 years) |
P6/F | 6 | + | 8 | 10 | + | − | + | + | − |
P7/M | 5 | + | 9 | 18 | + | + | - | + | − |
P8/M | 12 | + | 12 | 13 | + | − | + | + | + (8 years) |
P9/F | 11 | + | 6 | 22 | + | + | + | + | − |
P10/M | 4 | + | 6 | 7 | + | − | + | + | − |
P11/M | 10 | − | 6 | 16 | + | − | + | + | − |
P12/M | 5 | + | 4 | 9 | + | + | − | + | − |
P13/M | 6 | + | 6 | 8 | + | + | − | + | − |
P14/M | 8 | + | 8 | 22 | + | + | − | + | − |
P15/F | 9 | + | 4 | 12 | + | + | + | + | − |
P16/M | 18 | + | 5 | 25 | + | − | + | + | + (6 years) |
P17/M | 11 | − | 24 | 24 | + | − | − | − | − |
P18/M | 10 | − | 12 | 24 | + | − | + | + | + (6 years) |
P19/M | 9 | + | 10 | 18 | + | − | − | + | − |
P20/F | 4 | − | 11 | 13 | + | + | − | + | − |
