Nephropathic cystinosis is a severe, monogenic systemic disorder that presents 
early in life and leads to progressive organ damage, particularly affecting the 
kidneys. It is caused by mutations in the CTNS gene, which encodes the lysosomal 
transporter cystinosin, resulting in intralysosomal accumulation of cystine. 
Recent studies demonstrated that the loss of cystinosin is associated with 
disrupted autophagy dynamics, accumulation of distorted mitochondria, and 
increased oxidative stress, leading to abnormal proliferation and dysfunction of 
kidney cells. We discuss these molecular mechanisms driving nephropathic 
cystinosis. Further, we consider how unravelling molecular mechanisms supports 
the identification and development of new strategies for cystinosis by the use 
of small molecules, biologicals, and genetic rescue of the disease in vitro and 
in vivo.