Table 1.
Baseline characteristics and outcomes in patients with cystinosis.
| Characteristic (n=11) | Mean [SD] and Number (%) | |
|---|---|---|
| Age at diagnosis, years | 8.5 [7.2] | |
| Age at clinic presentation, years | 24 [7.57] | |
| Sex | Female | 7 (63.6%) |
| Ethnicity | British | 4 (36.4%) |
| South Asian | 7 (63.6%) | |
| BMI, kg/m2 | 24.4 [2.9] | |
| Renal status at presentation | Transplanted | 6 (54.5%) |
| Dialysis | 1 (9.0%) | |
| CKD | 4 (36.4%) | |
| Age at transplant, years | 9 [6.26] | |
| Type of transplant | Cadaveric | 9 (82%) |
| Live | 2 (18%) | |
| Immunosuppression at presentation | Tacrolimus | 10 (90.9%) |
| MMF | 7 (63.6%) | |
| Prednisolone | 9 (81.8%) | |
| Post-transplant biochemical values on presentation | ||
| eGFR, mL/min/1.73 m2 | 50 [34.1] | |
| uPCR, mg/mmol | 38.5 [23.0] | |
| Baseline WCC, nmol 1/2 cystine/mg protein | 1.68 [1.66] | |
| Baseline Vitamin D, nmol/L | 43.1 [28.4] | |
| Co-morbidities | ||
| Baseline Thyroid Status | Normal | 6 (54.5%) |
| Hypothyroid | 5 (45.5%) | |
| PEG | 3 (27.3%) | |
| GH Supplementation | 2 (18.2%) | |
| Outcomes | ||
| Follow-up, years | 6.5 [3.9] | |
| Alive (at end of follow-up) | 11 (100%) | |
| Graft function status (by end of follow-up) | Functional | 7 (63.6%) |
| Failed | 4 (36.4%) | |
| Graft survival duration, years | Entire cohort | 11.8 [10.9] |
| Functional | 11.2 [9.9] | |
| Failed | 12.8 [14.1] |
BMI: Body mass index; CKD: Chronic kidney disease; eGFR: Estimated glomerular filtration rate; GH: Growth hormone; MMF: Mycophenolate mofetil; PEG: Percutaneous endoscopic gastrostomy; SD: Standard deviation; uPCR: Urine protein–creatinine ratio; WCC: White cell cystine; Continuous variables are expressed as means (standard deviation), and categorical variables are expressed as numbers (percentages).