Abstract
Introduction Nephropathic cystinosis is a rare autosomal recessive disorder caused by a mutation in the CTNS gene, which encodes for cystinosin. It is characterized by the lysosomal accumulation of cystine, which leads to the formation of cystine crystals within various organs, including kidneys, brain, cornea, intestine and bone marrow. The exact role of intralysosomal cystine crystals accumulation in the pathogenesis of clinical features of cystinosis is still unclear, although it is well known that cystine levels are directly proportional to disease severity.
Highlights
Nephropathic cystinosis is a rare autosomal recessive disorder caused by a mutation in the CTNS gene, which encodes for cystinosin
The exact role of intralysosomal cystine crystals accumulation in the pathogenesis of clinical features of cystinosis is still unclear, it is well known that cystine levels are directly proportional to disease severity
In this study, we investigate whether cystine crystals are able to elicit inflammasome activation
Summary
Nephropathic cystinosis is a rare autosomal recessive disorder caused by a mutation in the CTNS gene, which encodes for cystinosin. It is characterized by the lysosomal accumulation of cystine, which leads to the formation of cystine crystals within various organs, including kidneys, brain, cornea, intestine and bone marrow. The exact role of intralysosomal cystine crystals accumulation in the pathogenesis of clinical features of cystinosis is still unclear, it is well known that cystine levels are directly proportional to disease severity
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