Abstract
Nephropathic cystinosis is an autosomal recessive monogenic kidney disorder
characterized by lysosomal accumulation of cystine throughout the body, causing organ
damage, particularly the kidneys. This is due to pathogenic mutations in the CTNS gene,
which encodes for the lysosomal cystine transporter cystinosin, transporting cystine
from the lysosome into the cytoplasm. Patients with nephropathic cystinosis
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