Nephropathic cystinosis

Nephropathic cystinosis is a rare, severe autosomal recessive lysosomal storage disease caused by pathogenic variants in the *CTNS* gene, which impairs the carrier protein cystinosin and results in systemic accumulation of cystine crystals within cellular lysosomes Without timely intervention, progressive renal parenchymal damage advances to end-stage kidney disease during childhood Over time, multiorgan accumulation of cystine leads to prominent extrarenal manifestations, including corneal crys...

Nephropathic cystinosis is a rare, severe autosomal recessive lysosomal storage disease caused by pathogenic variants in the *CTNS* gene, which impairs the carrier protein cystinosin and results in systemic accumulation of cystine crystals within cellular lysosomes

It predominantly manifests in infancy, presenting primarily with renal Fanconi syndrome—marked by proximal tubular dysfunction leading to severe urinary loss of fluids, electrolytes, and nutrients, alongside failure to thrive and hypophosphatemic rickets

It predominantly manifests in infancy, presenting primarily with renal Fanconi syndrome—marked by proximal tubular dysfunction leading to severe urinary loss of fluids, electrolytes, and nutrients, alongside failure to thrive and hypophosphatemic rickets

Without timely intervention, progressive renal parenchymal damage advances to end-stage kidney disease during childhood

Over time, multiorgan accumulation of cystine leads to prominent extrarenal manifestations, including corneal crystal deposition with photophobia, hypothyroidism, neuromuscular dysfunction, and endocrine abnormalities