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PedAM

Pediatric Disease Annotations & Medicines




Disease fanconi syndrome
Phenotype C0010690|cystinosis
Sentences 6
PubMedID- 24525030 cystinosis, a main cause of fanconi syndrome, is reproduced in congenic c57bl/6 cystinosin knockout (ko) mice.
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- 24309308 All cystinosis patients presented with renal fanconi syndrome.
PubMedID- 25811383 The mechanism of renal fanconi syndrome in cystinosis is still not completely understood [11].
PubMedID- 24798266 Methods: five cystinosis patients with renal fanconi syndrome, aged 2-18 years, were included.

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