{"entities":{"Q100075":{"pageid":90468,"ns":120,"title":"Item:Q100075","lastrevid":570396,"modified":"2026-08-16T16:45:53Z","type":"item","id":"Q100075","labels":{"mul":{"language":"mul","value":"ID_302560695"},"pt-br":{"language":"pt-br","value":"Diarreia malabsortiva cong\u00eanita devida \u00e0 escassez de c\u00e9lulas enteroend\u00f3crinas"},"en":{"language":"en","value":"Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Este novo tipo de diarreia cong\u00eanita malabsortiva \u00e9 caracterizado por m\u00e1 absor\u00e7\u00e3o generalizada e escassez de c\u00e9lulas enteroend\u00f3crinas. Os pacientes se apresentam durante as primeiras semanas de vida com v\u00f4mitos, diarreia, desidrata\u00e7\u00e3o e acidose metab\u00f3lica hiperclor\u00eamica grave ap\u00f3s a ingest\u00e3o de f\u00f3rmula padr\u00e3o \u00e0 base de leite de vaca. Tamb\u00e9m foi associado a diabetes tipo 1 durante a inf\u00e2ncia. Este fen\u00f3tipo \u00e9 causado por muta\u00e7\u00f5es de perda de fun\u00e7\u00e3o no gene NEUROG3, que codifica a neurogenina 3, uma prote\u00edna implicada no desenvolvimento de c\u00e9lulas end\u00f3crinas ent\u00e9ricas e pancre\u00e1ticas."},"en":{"language":"en","value":"This new type of congenital malabsorptive diarrhoea is characterised by a generalised malabsorption and a paucity of enteroendocrine cells. Patients presented during the first weeks of life with vomiting, diarrhoea, dehydration, and a severe hyperchloremic metabolic acidosis after the ingestion of standard cow's milk-based formula. It was also associated with type 1 diabetes during childhood. This phenotype is caused by loss-of-function mutations in the NEUROG3 gene, coding for neurogenin 3, a protein implicated in endocrine enteric and pancreatic cell development."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"b5120d5c0591ea2c01cbffeda834c07bf68d35e2","datavalue":{"value":"https://id.who.int/icd/entity/302560695","type":"string"},"datatype":"url"},"type":"statement","id":"Q100075$D3B4F098-43CD-4251-9EDC-77476F9F2721","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"989f7f1a7dc0b4d2c46330dc3c5dbb9b0884a75e","datavalue":{"value":"CID11:ID_302560695","type":"string"},"datatype":"string"},"type":"statement","id":"Q100075$9DD6CD3C-4C93-4F76-AF9A-10974AD833BC","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"233c66240ec0d74f2a372d35b16686197cbfab1e","datavalue":{"value":"dki-india-ID_302560695","type":"string"},"datatype":"string"},"type":"statement","id":"Q100075$242E75C6-7CA4-4D18-BC29-394A3DB2369F","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q100075$976FA2D5-1168-405C-9BB5-E91A047A96B4","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":"Q100075$00F53BC8-BDEB-4B88-BE4C-8E2158DD511F","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":"Q100075$88077B69-3677-4B22-8919-88BFCAC3E2E9","rank":"normal"}]},"sitelinks":{}}}}