Zespół Imerslund-Gräsbecka

Zespół Imerslund-Gräsbecka
Klasyfikacje
ICD-10

D51.1
Niedokrwistość z niedoboru witaminy B12 spowodowana wybiórczym upośledzeniem wchłaniania witaminy B12 połączona z białkomoczem. Zespół Imerslund (Imerslund-Gräsbecka). Dziedziczna niedokrwistość megaloblastyczna.

Zespół Imerslund-Gräsbecka (ang. Imerslund-Gräsbeck syndrome, IGS, selective vitamin B12 malabsorption with proteinuria) – rzadka choroba uwarunkowana genetycznie, spowodowana zmniejszonym wychwytem witaminy B12 w jelicie krętym przez receptory dla kompleksu czynnik wewnętrzny-witamina B12. Zwykle niedokrwistości z niedoboru witaminy B12 towarzyszy białkomocz. Zespół Imerslund-Gräsbecka jest rzadką przyczyną niedokrwistości z niedoboru witaminy B12. Chorobę opisali jako pierwsi Emil Najman i Beata Brausil w 1952 roku[1], a kolejne opisy przedstawili Olga Imerslund w 1959[2][3] i Armas Ralph Gustaf Gräsbeck[4][5] w 1960 roku.

Zobacz też

Przypisy

  1. ↑ Najman E, Brausil B. Megaloblastische Anämie mit Relapsen ohne Achylia gastrica im Kindesalter. „Annales paediatrici”. 178 (1), s. 47-59, 1952. 
  2. ↑ Imerslund O: Idiopathic chronic megaloblastic anemia in children needing continuous treatment. Oslo: Oslo University Press, 1959.
  3. ↑ Imerslund O. Idiopathic chronic megaloblastic anemia in children. „Acta Pædiatrica”. 49 (Supplement 119), s. 1-115, 1960. 
  4. ↑ Gräsbeck RG. Familjär selektiv B12-malabsorption med proteinuri. Ett perniciosaliknande syndrom. „Nordisk Medicin”. 63, s. 322-323, 1960. 
  5. ↑ Gräsbeck RG, Gordin R, Kantero I, Kuhlbäck B. Selective vitamin B12 malabsorption and proteinuria in young people: a syndrome. „Acta Medica Scandinavica”. 167, s. 289-296, 1960-07-15. 

Bibliografia

  • Ralph Gräsbeck. Imerslund-Gräsbeck syndrome (selective vitamin B12 malabsorption with proteinuria). „Orphanet Journal of Rare Diseases”. 1:17, 2006-05-19. DOI: 10.1186/1750-1172-1-17. PMID: 16722557. 

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