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PedAM

Pediatric Disease Annotations & Medicines




Disease cystinosis, nephropathic
Symptom C0015624|fanconi syndrome
Sentences 5
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- 24798266 Methods: five cystinosis patients with renal fanconi syndrome, aged 2-18 years, were included.
PubMedID- 24309308 All cystinosis patients presented with renal fanconi syndrome.
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- 24525030 cystinosis, a main cause of fanconi syndrome, is reproduced in congenic c57bl/6 cystinosin knockout (ko) mice.

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