Infantile Nephropathic Cystinosis - Homozygous c.516dupC Mutation of the CTNS Gene

Objective: Cystinosis is a rare, autosomal recessive, lysosomal storage disorder characterized by cystine accumulation throughout the body, due to mutations in gene encoding cystinosin, named CTNS. Infantile nephropathic cystinosis (INC), most severe form of disease and common cause renal Fanconi syndrome (FS), starts with proximal tubulopathy causes failure various extra-renal manifestations over time. Case Presentation: The authors report 15-month-old boy Greek origin who presented thrive last 7 months was noted have decreased weight short stature. metabolic control showed normoglycemic glucosuria, significant proteinuria, generalized aminoaciduria, suggesting FS. Sequencing analysis CTNS revealed frameshift mutation c.516dupC homozygous state, confirming diagnosis INC. Only one compound heterozygous individual for this has been reported before. Conclusion: index case brings out new correlation state pure INC phenotype. Alongside, it reminds clinicians consider differential or