Vitamin B12 deficiency anaemia due to selective vitamin B12 malabsorption with proteinuria (Q88870): Difference between revisions
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A síndrome de Imerslund-Gräsbeck ou má absorção seletiva de vitamina B12 (cobalamina) com proteinúria é uma doença autossômica recessiva rara caracterizada por deficiência de vitamina B12 comumente resultando em anemia megaloblástica, que responde à terapia parenteral de vitamina B12 e aparece na infância. Outras manifestações incluem atraso de crescimento e desenvolvimento, infecções e lesões neurológicas. Proteinúria leve (sem sinais de doença renal) está presente em cerca de metade dos pacientes. A causa é um defeito no receptor do complexo vitamina B12-fator intrínseco do enterócito ileal. Na maioria dos casos, a base molecular da má absorção seletiva e da proteinúria envolve uma mutação em um dos dois genes, cubilina (CUBN) no cromossomo 10 ou amnionless (AMN) no cromossomo 14. Ambas as proteínas são componentes do receptor intestinal do Complexo vitamina B12-fator intrínseco e do receptor mediador da reabsorção tubular da proteína da urina primária. | |||
| description / en | description / en | ||
Imerslund-Gräsbeck 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. | |||
Revision as of 15:15, 15 August 2026
Imerslund-Gräsbeck 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.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1099048678 |
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| English | Vitamin B12 deficiency anaemia due to selective vitamin B12 malabsorption with proteinuria |
Imerslund-Gräsbeck 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. |
