An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.

Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding the lysosomal cystine transporter cystinosin, causing accumulation of cystine in multiple organs. Over the years, the disease has evolved from being a fatal condition during early childhood into a treatable condition, with patients surviving into adulthood. Data on cystinosis are limited by the rarity of the disease. Here, we have investigated factors associated with kidney and growth outcome in a very large cohort of 453 patients born between 1964 and 2016 and followed in Belgium, Germany, Austria, France, Italy, Spain, The Netherlands, Turkey and United Kingdom.

Source: Kidney International - July 5, 2021 Category: Urology & Nephrology Authors: Francesco Emma, William van ’t Hoff, Katharina Hohenfellner, Rezan Topaloglu, Marcella Greco, Gema Ariceta, Chiara Bettini, Detlef Bockenhauer, Koenraad Veys, Lars Pape, Sally Hulton, Suzanne Collin, Fatih Ozaltin, Aude Servais, Georges Deschênes, Robe Tags: clinical investigation Source Type: research