eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cystinosis |
| Comorbidity | C0015624|fanconi syndrome |
| Sentences | 4 |
| PubMedID- 26477696 | The damage to the proximal tubules of the kidneys results in fanconi syndrome, and patients with cystinosis experience the progression of chronic kidney disease, resulting in the need for kidney transplantation. |
| PubMedID- 22690227 | Renal tubular diseases (renal glucosuria, fanconi syndrome with or without cystinosis, aminoacidurias, renal tubular acidosis, nephrogenic diabetes insipidus, and others) are rare and complex, and their management usually requires the help of a pediatric nephrologist [8]. |
| PubMedID- 24525030 | cystinosis, a main cause of fanconi syndrome, is reproduced in congenic c57bl/6 cystinosin knockout (ko) mice. |
| PubMedID- 24798266 | Methods: five cystinosis patients with renal fanconi syndrome, aged 2-18 years, were included. |
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