Shanmugam Muthukrishnan

Infantile Nephropathic Cystinosis Presenting as Bartter-like Syndrome in Infancy: A Case Report with CTNS Gene Variant

Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, leading to cystine accumulation and multiorgan involvement. It typically presents with features of proximal tubular dysfunction; however, atypical presentations may pose diagnostic challenges. In the p...