Open access
Nov 2026
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.
Elakeya Elumalai Saraswaty, Shivaashankari Dharmalingam, S. Muthukrishnan et al.
· Journal of Clinical and Diag... · 0 citations