{"entities":{"Q88870":{"pageid":79255,"ns":120,"title":"Item:Q88870","lastrevid":489746,"modified":"2026-08-15T15:15:43Z","type":"item","id":"Q88870","labels":{"mul":{"language":"mul","value":"ID_1099048678"},"pt-br":{"language":"pt-br","value":"Anemia por defici\u00eancia de vitamina B12 devida \u00e0 m\u00e1 absor\u00e7\u00e3o seletiva de vitamina B12 com protein\u00faria"},"en":{"language":"en","value":"Vitamin B12 deficiency anaemia due to selective vitamin B12 malabsorption with proteinuria"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A s\u00edndrome de Imerslund-Gr\u00e4sbeck ou m\u00e1 absor\u00e7\u00e3o seletiva de vitamina B12 (cobalamina) com protein\u00faria \u00e9 uma doen\u00e7a autoss\u00f4mica recessiva rara caracterizada por defici\u00eancia de vitamina B12 comumente resultando em anemia megalobl\u00e1stica, que responde \u00e0 terapia parenteral de vitamina B12 e aparece na inf\u00e2ncia. Outras manifesta\u00e7\u00f5es incluem atraso de crescimento e desenvolvimento, infec\u00e7\u00f5es e les\u00f5es neurol\u00f3gicas. Protein\u00faria leve (sem sinais de doen\u00e7a renal) est\u00e1 presente em cerca de metade dos pacientes. A causa \u00e9 um defeito no receptor do complexo vitamina B12-fator intr\u00ednseco do enter\u00f3cito ileal. Na maioria dos casos, a base molecular da m\u00e1 absor\u00e7\u00e3o seletiva e da protein\u00faria envolve uma muta\u00e7\u00e3o em um dos dois genes, cubilina (CUBN) no cromossomo 10 ou amnionless (AMN) no cromossomo 14. Ambas as prote\u00ednas s\u00e3o componentes do receptor intestinal do Complexo vitamina B12-fator intr\u00ednseco e do receptor mediador da reabsor\u00e7\u00e3o tubular da prote\u00edna da urina prim\u00e1ria."},"en":{"language":"en","value":"Imerslund-Gr\u00e4sbeck syndrome or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterised by vitamin B12 deficiency commonly resulting in megaloblastic anaemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood. Other manifestations include failure to thrive and grow, infections and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of the patients. The cause is a defect in the receptor of the vitamin B12-intrinsic factor complex of the ileal enterocyte. In most cases, the molecular basis of the selective malabsorption and proteinuria involves a mutation in one of two genes, cubilin (CUBN) on chromosome 10 or amnionless (AMN) on chromosome 14. Both the proteins are components of the intestinal receptor for the vitamin B12-intrinsic factor complex and the receptor mediating the tubular reabsorption of protein from the primary urine."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"406a1eb39cf56f16d6a3fff4c0d457c110783666","datavalue":{"value":"https://id.who.int/icd/entity/1099048678","type":"string"},"datatype":"url"},"type":"statement","id":"Q88870$052DBBD8-B32B-40FC-80FC-F66B58784992","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"526d15366f75fa281b43fe4682f7d4df84f31014","datavalue":{"value":"CID11:ID_1099048678","type":"string"},"datatype":"string"},"type":"statement","id":"Q88870$18AF974B-61C9-4B5E-927E-275605B19750","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"bf48f7cc43e47f3f9f791cfb43a7066ec315d7f4","datavalue":{"value":"dki-india-ID_1099048678","type":"string"},"datatype":"string"},"type":"statement","id":"Q88870$2E984295-7BDD-4F0F-89E6-135A95B3A9D2","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q88870$818986CA-70B5-4AE3-B30A-A56979FF9B72","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":"Q88870$10B900DC-1188-4F4C-B7ED-A1823A10EA67","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q88870$F11677A9-8D35-4401-9C31-694E3BC744A6","rank":"normal"}]},"sitelinks":{}}}}