{"entities":{"Q52672":{"pageid":43045,"ns":120,"title":"Item:Q52672","lastrevid":229787,"modified":"2026-08-13T23:58:59Z","type":"item","id":"Q52672","labels":{"mul":{"language":"mul","value":"ID_398872780"},"pt-br":{"language":"pt-br","value":"Doen\u00e7a de Niemann-Pick"},"en":{"language":"en","value":"Niemann-Pick disease"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A doen\u00e7a de Niemann-Pick \u00e9 um dist\u00farbio de armazenamento lisossomal autoss\u00f4mico recessivo causado pela atividade deficiente da esfingomielinase \u00e1cida, abrangendo duas formas clinicamente distintas: tipo A e tipo B. O tipo A \u00e9 caracterizado por um in\u00edcio precoce, no primeiro ano de vida, dist\u00farbios digestivos, atraso de crescimento, hepatoesplenomegalia grave e sintomas neurol\u00f3gicos graves (retardo psicomotor, hipotonia). Os transtornos neurol\u00f3gicos graves e as infec\u00e7\u00f5es pulmonares levam \u00e0 morte precoce, geralmente por volta dos 4 anos de idade. No tipo B, o in\u00edcio ocorre em qualquer idade (at\u00e9 a idade adulta) e o sinal mais constante \u00e9 a hepatoesplenomegalia, que pode estar associada a sintomas pulmonares."},"en":{"language":"en","value":"Niemann-Pick disease is an autosomal recessive lysosomal storage disorder caused by the deficient activity of acid sphingomyelinase, encompassing two clinically distinct forms: type A and type B. Type A is characterised by an early onset, within the first year of life, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms (psychomotor retardation, hypotonia). The severe neurological disorders and pulmonary infections lead to an early death, often around the age of 4. In type B ), onset occurs at any age (until adulthood) and the most constant sign is hepatosplenomegaly, which can be associated with pulmonary symptoms."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"ec491471079297ea4f2bbd2d2c6584e927b2911d","datavalue":{"value":"https://id.who.int/icd/entity/398872780","type":"string"},"datatype":"url"},"type":"statement","id":"Q52672$A0EB5CCC-BC95-4D4A-ACAA-F40307A0EF78","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"83b8e5b253fed33b962f1ffa1b0516d6e2168627","datavalue":{"value":"CID11:ID_398872780","type":"string"},"datatype":"string"},"type":"statement","id":"Q52672$3B174AA2-A14A-42E4-BBCE-880D039B3F1A","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"81f3c3a9124af693bfc04ab45fee423d94dc0b39","datavalue":{"value":"dki-india-ID_398872780","type":"string"},"datatype":"string"},"type":"statement","id":"Q52672$956EB745-16A1-4923-B5F3-1AB9825DF92B","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q52672$3F53C352-C219-4B4A-B68B-DEDD6EF2B35C","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":"Q52672$075462C8-62E7-4145-B82B-F56A52B4404D","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":"Q52672$9BBCBF4F-C5E6-41EC-9EF9-C03133E65F86","rank":"normal"}]},"sitelinks":{}}}}