{"entities":{"Q97351":{"pageid":87744,"ns":120,"title":"Item:Q97351","lastrevid":550723,"modified":"2026-08-16T13:27:33Z","type":"item","id":"Q97351","labels":{"mul":{"language":"mul","value":"ID_119811769"},"pt-br":{"language":"pt-br","value":"S\u00edndrome de Alport, ligada ao X com leiomiomatose difusa"},"en":{"language":"en","value":"Alport syndrome, X-linked diffuse leiomyomatosis"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Leiomiomatose difusa ligada ao X - s\u00edndrome de Alport descreve a associa\u00e7\u00e3o da s\u00edndrome de Alport ligada ao X com leiomiomatose do om\u00f3fago, \u00e1rvore traqueobr\u00f4nquica ou genitais femininos. A s\u00edndrome de Alport \u00e9 definida por nefropatia glomerular com hemat\u00faria, que evolui para doen\u00e7a renal em est\u00e1gio terminal, associada \u00e0 surdez neurossensorial. A leiomiomatose \u00e9 caracterizada por prolifera\u00e7\u00e3o benigna de c\u00e9lulas do m\u00fasculo liso. Les\u00f5es om\u00f3fagas, evidenciadas por exames radiogr\u00e1ficos, s\u00e3o respons\u00e1veis por disfagia e dor retroesternal. Les\u00f5es traqueobr\u00f4nquicas levam a dispneia e complica\u00e7\u00f5es durante anestesia. Mulheres afetadas tipicamente apresentam hipertrofia clitoriana e vulvar. Esta \u00e9 uma s\u00edndrome g\u00eanica cont\u00edgua por dele\u00e7\u00e3o 5' terminal de COL4A5 e COL4A6."},"en":{"language":"en","value":"X-linked diffuse leiomyomatosis - Alport syndrome describes the association of X-linked Alport syndrome with leiomyomatosis of the omophagous, tracheobronchial tree or female genitals. Alport syndrome is defined by glomerular nephropathy with haematuria, progressing to end-stage renal disease, associated with sensorineural deafness. Leiomyomatosis is characterised by benign smooth muscle cell proliferation. Omophagous lesions, evidenced by radiographic examinations, are responsible for dysphagia and retrosternal pain. Tracheobronchial lesions lead to dyspnoea and complications during anaesthesias. Affected females typically show clitoral and vulvar hypertrophy. This is a contiguous gene syndrome by 5' terminal deletion of both COL4A5 and COL4A6."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"9d0c07f8c499ee2c5ee2a019956a7b5bc730763e","datavalue":{"value":"https://id.who.int/icd/entity/119811769","type":"string"},"datatype":"url"},"type":"statement","id":"Q97351$2020D283-98F7-4FEA-82E5-929C2D3FCD1D","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"c165c12406b49695c30921dc20b2a4b2f44c1844","datavalue":{"value":"CID11:ID_119811769","type":"string"},"datatype":"string"},"type":"statement","id":"Q97351$4576BD77-9A05-4861-8110-2BB93F68BA71","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"0364a544166602350fdceb888d48aa968db6f226","datavalue":{"value":"dki-india-ID_119811769","type":"string"},"datatype":"string"},"type":"statement","id":"Q97351$F01D1A3F-2569-4C4F-88C7-310B98689EA6","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q97351$6822C71C-B1BC-44CF-A942-D5BCCD964F05","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":"Q97351$03D298FF-CDF9-4102-A251-603DABA07EC4","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q97351$BAF45943-D01F-4F67-940D-C2831AA95B02","rank":"normal"}]},"sitelinks":{}}}}