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PedAM

Pediatric Disease Annotations & Medicines




Disease rickets
Phenotype C0015624|fanconi syndrome
Sentences 3
PubMedID- 25954677 We report a seven-year-old boy with nephropathic cystinosis who presented with all the cardinal features of renal fanconi syndrome associated with rickets, pathological fractures, stage iv chronic kidney disease (ckd) and hypothyroidism.
PubMedID- 24386581 Diagnosis of renal fanconi syndrome presenting with hypophosphatemic rickets was made on the basis of phosphaturia, glycosuria, generalized aminoaciduria, and metabolic acidosis.
PubMedID- 20946626 There is considerable inter- and intra-familial variability in the other manifestations of pt dysfunction, which may cause a renal fanconi syndrome with hypophosphataemic rickets, as well as in the extent of nephrocalcinosis/nephrolithiasis.

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