Vitamin B12 deficiency anaemia due to selective vitamin B12 malabsorption with proteinuria - CISMeF
Vitamin B12 deficiency anaemia due to selective vitamin B12 malabsorption with proteinuriaICD-11 More detail
Preferred Label : Vitamin B12 deficiency anaemia due to selective vitamin B12 malabsorption with proteinuria;
ICD-11 definition : Imerslund-Gräsbeck syndrome or selective vitamin B12 (cobalamin) malabsorption with
proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency
commonly resulting in megaloblastic anemia, 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.;
Imerslund-Gräsbeck syndrome or selective vitamin B12 (cobalamin) malabsorption with
proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency
commonly resulting in megaloblastic anemia, 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.