{"entities":{"Q40013":{"pageid":30381,"ns":120,"title":"Item:Q40013","lastrevid":125820,"modified":"2026-08-13T05:39:23Z","type":"item","id":"Q40013","labels":{"mul":{"language":"mul","value":"5C60.1"},"pt-br":{"language":"pt-br","value":"Cistinose"},"en":{"language":"en","value":"Cystinosis"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A cistinose \u00e9 uma doen\u00e7a metab\u00f3lica caracterizada pelo ac\u00famulo de cistina dentro dos lisossomas de diferentes tecidos devido a um defeito no transporte da cistina para fora dos lisossomos. Existem tr\u00eas formas cl\u00ednicas: infantil, juvenil e ocular. A forma infantil \u00e9 a doen\u00e7a multissist\u00eamica grave, com diminui\u00e7\u00e3o da capacidade de reabsor\u00e7\u00e3o do t\u00fabulo proximal que leva a altera\u00e7\u00f5es graves do equil\u00edbrio hidroeletrol\u00edtico, dep\u00f3sito de cistina em v\u00e1rios \u00f3rg\u00e3os e progress\u00e3o para insufici\u00eancia renal ap\u00f3s os 6 anos de idade. A cistinose juvenil surge por volta dos 8 anos de idade e tem um quadro cl\u00ednico intermedi\u00e1rio com doen\u00e7a renal em est\u00e1gio terminal ocorrendo ap\u00f3s os 15 anos de idade. A forma adulta ocular apresenta fotofobia."},"en":{"language":"en","value":"Cystinosis is a metabolic disease characterised by an accumulation of cystine inside the lysosomes of different tissues due to a defect in cystine transport out of lysosomes. There are three clinical forms : infantile, juvenile and ocular. The infantile form is severe, multisystem disease, with impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, cystine deposits in various organs and progression towards renal failure after 6 years of age. Juvenile cystinosis appear around 8 years of age and has an intermediate clinical picture with end-stage renal disease occurring after the age of 15.The ocular, adult form presents with photophobia."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"e2c5728f358cfe78cb23dd93cb57239b54d2a9c7","datavalue":{"value":"https://id.who.int/icd/entity/733715856","type":"string"},"datatype":"url"},"type":"statement","id":"Q40013$1E8CC09F-4024-4F88-B13F-7FF2C5FE2618","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"acaf8b98c5aedbc78a78549dbefc2fe66f641b42","datavalue":{"value":"CID11:5C60.1","type":"string"},"datatype":"string"},"type":"statement","id":"Q40013$699E3B8A-2170-4ADB-A77B-A0E3CD9F6D96","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"ceddb73a84325f78b37dda2bf9c33d5f0af6b6b8","datavalue":{"value":"dki-india-5C60.1","type":"string"},"datatype":"string"},"type":"statement","id":"Q40013$07DE6FE3-7BDC-4054-BA6E-4FDC15CF5CAD","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q40013$11BC28B9-7BD2-4A02-AE92-4231732BBD68","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q40013$E3D82F45-7B5B-4F25-B1BD-672048235539","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q40013$C6484CD9-4EDE-4777-9C16-D5151AA17506","rank":"normal"}],"P89":[{"mainsnak":{"snaktype":"value","property":"P89","hash":"f3a33a4616bd222d8b2ad10e5c6003d86bbda6d6","datavalue":{"value":{"entity-type":"item","numeric-id":15571,"id":"Q15571"},"type":"wikibase-entityid"},"datatype":"wikibase-item"},"type":"statement","id":"Q40013$94D0D48C-2656-49A3-861C-9B07F6894396","rank":"normal"}]},"sitelinks":{}}}}