PedAM
Pediatric Disease Annotations & Medicines
| Disease | cystinosis, nephropathic |
| Phenotype | C0022658|renal disease |
| Sentences | 2 |
| PubMedID- 24309308 | renal disease in cystinosis is characterized by generalized dysfunction of the apical proximal tubular influx transporters (so-called renal fanconi syndrome) developing during infancy and gradually progressing towards end-stage renal disease before the 10th birthday in the majority of patients that are not treated with the cystine-depleting drug cysteamine. |
| PubMedID- 20734088 | Two independent studies demonstrated superior renal graft survival in cystinosis, compared with other renal diseases [12, 13]. |
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