“Juvenile megaloblastic anaemia 1”的意思、由来-开放百科全书

词条

Juvenile megaloblastic anaemia 1

释义

Pathophysiology
References

Juvenile megaloblastic anaemia 1 (Imerslund-Grasbeck syndrome) is a disease caused by selective cobalamin malabsorption and inconstant proteinuria. It is caused by mutations in the cubilin (CUBN) or amnionless (AMN) genes.^[1]

Pathophysiology

The protein cubilin binds to intrinsic factor-cobalamin complex and is expressed in the distal small intestine and proximal renal tubule. Amnionless is a transmembrane protein that binds tightly to the N-terminal end of cubilin. Together these proteins form the multiligand cubam complex. Mutations in these genes may cause a decrease in the uptake of vitamin B12 leading to megaloblastic anaemia.

References

1. ^Namour F, Dobrovoljski G, Chery C, Audonnet S, Feillet F, Sperl W, Gueant JL (2011) Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7. Haematologica

2 : Nutritional anemias|Hematopathology

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