Clinical characteristics according to mutation group
General Features | Missense Mutations | Deletion/Duplication/Splice/Missense Mutationsa | P Value | |
---|---|---|---|---|
No. of patients | 34 | 61 | ||
Boys/girls, n | 18/16 | 34/27 | 0.79 | |
Age at diagnosis, median (IQR), yr | 2 (1–8) | 2 (1–3) | 0.11 | |
Age at the last follow-up visit, mean±SD, yr | 13±7 | 10±6 | 0.10 | |
Duration of follow-up, mean±SD, yr | 8±7 | 7±6 | 0.51 | |
Cysteamine dose, mean±SD, mg⋅kg–1⋅d–1 | 51.0±12.4 | 52.1±11.8 | 0.85 | |
Age at onset of ESRD, mean±SD, yr | 12±6 | 10±3 | 0.79 | |
eGFR at last follow-up visit,b mean±SD, yr | 90±50 | 68±41 | 0.09 | |
Leukocyte cystine level,c median (IQR) | 1.6 (1.6–3.6) | 1.5 (0.6–4.1) | 0.82 | |
Systemic findings, n | 0.51 | |||
Hypothyroidism | 7 | 19 | ||
Rickets | 13 | 21 | ||
Gastrointestinal involvement | 2 | 4 | ||
RRT at the last follow-up visit (patient no.), n | 0.95 | |||
Peritoneal dialysis | 5 | 5 | ||
Hemodialysis | 1 | 7 | ||
Transplantation | 7 | 11 |