Cystinosis: A Rare Case Presentation
Cystinosis is a systemic disease caused by defect in metabolism of Cystine. It typically presents as Fanconi syndrome with metabolic acidosis, polyuria, failure to thrive, glucosuria, phophaturia and aminoaciduria. Our patient did not display metabolic acidosis at presentation and had features sugge...
|Main Authors:||, ,|
Thieme Medical and Scientific Publishers Pvt. Ltd.
|Series:||International Journal of Recent Surgical and Medical Sciences|