{"id":734,"date":"2024-05-01T16:08:22","date_gmt":"2024-05-01T16:08:22","guid":{"rendered":"https:\/\/www.chiesimedical.co.uk\/patient\/?page_id=734"},"modified":"2024-10-15T14:57:32","modified_gmt":"2024-10-15T14:57:32","slug":"cystinosis","status":"publish","type":"page","link":"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/cystinosis\/","title":{"rendered":"Nephropathic cystinosis"},"content":{"rendered":"\n
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Alpha-mannosidosis<\/h2>\n <\/div>\n <\/a>\n \n \n
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Fabry disease<\/h2>\n <\/div>\n <\/a>\n \n \n
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Nephropathic cystinosis <\/h2>\n <\/div>\n <\/a>\n \n \n
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Beta-thalassaemia<\/h2>\n <\/div>\n <\/a>\n \n \n
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Leber hereditary optic neuropathy<\/h2>\n <\/div>\n <\/a>\n \n \n
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Homozygous familial hypercholesterolemia<\/h2>\n <\/div>\n <\/a>\n \n \n
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Lipodystrophy<\/h2>\n <\/div>\n <\/a>\n \n \n
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Epidermolysis bullosa<\/h2>\n <\/div>\n <\/a>\n <\/div>\n\n\n\n

Nephropathic cystinosis<\/h2>\n\n\n\n

Nephropathic cystinosis is an ultra-rare condition caused by a change in the CTNS<\/em> gene. It results in a build-up of the amino acid cystine. Amino acids are the building blocks of proteins found throughout the body. When cystine builds up, it forms crystals that are commonly found in the kidneys, eyes, muscles and pancreas.1\u20134<\/sup><\/p>\n\n\n\n

There are three main types of cystinosis, including:1,5<\/sup><\/p>\n\n\n\n