5 Facts you should know about

Nephropathic cystinosis

Infantile nephropathic cystinosis accounts for ~95% of cases

The first clinical signs in patients with infantile nephropathic cystinosis are polyuria, polydipsia, and failure to thrive

The natural course of cystinosis in the eyes leads to blepharospams, corneal erosions, superficial punctuate keratopathy, and band keratopathy

Increased urinary loss of phosphate, calcium, and disturbances in vitamin D metabolism cause hypophosphatemic rickets in cystinosis patients

Accumulation of cystine crystals in the brain leads to neurocognitive impairment

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