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Homozygot mutation i intrinsic factor-genet hos et barn med svaer vitamin B 12 -mangel
Engelsk titel: Homozygous mutation in the intrinsic factor gene in a child with severe vitamin B12 deficiency Läs online Författare: Helgestad, Jon ; Gräsbeck, Ralph ; Leunbach, Tina Lund ; Johansen, Preben ; Tanner, Stephan M Språk: Dan Antal referenser: 3 Dokumenttyp: Fallbeskrivning UI-nummer: 11091858

Tidskrift

Ugeskrift for Laeger 2011;173(34)2047-8 ISSN 0041-5782 E-ISSN 1603-6824 KIBs bestånd av denna tidskrift Denna tidskrift är expertgranskad (Peer-Reviewed)

Sammanfattning

A 28 month-old boy was hospitalized with pallor and weight stagnation. He had macrocytic anaemia and pancytopenia due to cobalamin deficiency and a rare homozygous mutation in the intrinsic factor gene. His sister showed similar symptoms at the age of 15 months. The heterozygous father had no symptoms, but did have a low cobalamin level. Gastroscopy with biopsies showed no pathology. All were given monthly cyanocobalamin injections w hich, however, caused leg cramps. Replacement with monthly hydroxocobalamin was successful.