Article
Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis.
Orphanet journal of rare diseases - 26 Feb 2020
Curie Aurore, Touil Nathalie, Gaillard Ségolène, Galanaud Damien, Leboucq Nicolas, Deschênes Georges, Morin Denis, Abad Fanny, Luauté Jacques, Bodenan Eurielle, Roche Laurent, Acquaviva Cécile, Vianey-Saban Christine, Cochat Pierre, Cotton François, Bertholet-Thomas Aurélia
Abstract excerpt
BACKGROUND: Cystinosis is a rare autosomal recessive disorder caused by intracellular cystine accumulation. Proximal tubulopathy (Fanconi syndrome) is one of the first signs, leading to end-stage renal disease between the age of 12 and 16. Other symptoms occur later and encompass endocrinopathies, distal myopathy and deterioration of the central nervous system. Treatment with cysteamine if started early can delay...
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