Elakeya Elumalai Saraswaty

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

This case highlights that infantile nephropathic cystinosis should be considered in infants presenting with hypokalaemia, persistent polyuria, polydipsia, failure to thrive, and elevated plasma renin, even in the absence of classical Fanconi syndrome or corneal cystine crystals.