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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cystinosis
Comorbidity C0022658|renal disease
Sentences 2
PubMedID- 20734088 Two independent studies demonstrated superior renal graft survival in cystinosis, compared with other renal diseases [12, 13].
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.

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