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2680 pages added, reviewed or updated during the last month (last updated: 13/4/2021)


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cystinosis

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Cystinosis is an autosomal recessive lyosomal storage disorder resulting from impaired cystine transport with a consequent intracellular cystine accumulation in many tissues. This disease is the most common cause of renal tubular Fanconi's syndrome.

This disease must not be confused with cystinuria which is an autosomal recessive disorder characterised by a specific dibasic aminoaciduria, the result of a defective tubular reabsorption mechanism.

Last reviewed 01/2018

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