Rare Medical News
5 Facts you should know about
Nephropathic cystinosis
1
Infantile nephropathic cystinosis accounts for ~95% of cases.
2
The first clinical signs in patients with infantile nephropathic cystinosis are polyuria, polydipsia, and failure to thrive.
3
The natural course of cystinosis in the eyes leads to blepharospams, corneal erosions, superficial punctuate keratopathy, and band keratopathy.
4
Increased urinary loss of phosphate, calcium, and disturbances in vitamin D metabolism cause hypophosphatemic rickets in cystinosis patients.
5
Accumulation of cystine crystals in the brain leads to neurocognitive impairment.
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