The syndrome of Imerslund-Grasbeck or weakens megaloblastic by selective malabsorption of cobalamine with protéinurie is a deficit in Vitamine B12 outcome with a megaloblastic Anémie in childhood and correcting itself by parenteral administration of B12 vitamin. This pathology is primarily localized in Finland and Norway.

The other demonstrations of this disease include/understand a staturo-ponderal insufficiency, frequent infections and neurological signs. A protéinurie without renal lesion is present at half of the patients. Urinary anomalies of the tree are sometimes observed.

The tests of absorption of the B12 vitamin show a slow absorption not corrected by the intrinsic administration of factor. The beginning of the disease can occur a few months after the birth or several years afterwards.

The causal anomaly is a malfunction of the receiver of the B12 vitamin in the intestinal cell by change of the genes CUBN or AMN which is responsible for the intestinal absorption of B12 vitamin and the renal tubular reabsorption of proteins.

The treatment consists of injections of B12 vitamin but the protéinurie persists.

Sources

• Ralph Grasbeck, Imerslund-Grasbeck Syndrome (Selective Vitamin B12 Malabsorption with Proteinuria) in Orphanet Newspaper off Rare Diseases 2006,1:17 (May 2006) Orphanet Newspaper off Rare Diseases 2006,1:17 DOI: 10.1186/1750-1172-1-17