Late onset of Imerslund-Gräsbeck syndrome without proteinuria in four children of one family from the Lebanon

European Journal of Pediatrics

Volumn 162, Issue 11, 2003, Pages 808-809

  Rössler, Jochen ^a,b   Breitenstein, Stefanie ^a   Havers, Werner ^a  

^a UNIVERSITY OF DUISBURG ESSEN   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CUBILIN; INTRINSIC FACTOR; MEGALIN;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 10; CYANOCOBALAMIN DEFICIENCY; FEMALE; GENETIC DISORDER; GENETIC PREDISPOSITION; GENETICS; HUMAN; IMERSLUND GRASBECK SYNDROME; KIDNEY PROXIMAL TUBULE; LEBANON; MALABSORPTION; MALE; MULTIGENE FAMILY; ONSET AGE; PEDIGREE; PRIORITY JOURNAL; PROGNOSIS; PROTEINURIA; RISK ASSESSMENT;

AGE OF ONSET; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LEBANON; MALABSORPTION SYNDROMES; MALE; PEDIGREE; PROGNOSIS; PROTEINURIA; RISK ASSESSMENT; VITAMIN B 12 DEFICIENCY;

EID: 0242487683     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-003-1306-8     Document Type: Article

References (6)

1. Altay C, Cetin M, Gümrük F, Irken G, Yetgin S (1995) Familial selective vitamin B12 malabsorption (Imerslund-Gräsbeck syndrome) in a pool of Turkish patients. Pediatr Hematol Oncol 12: 19-28
2. Aminoff M, Carter JE, Chadwick RB, Johnson C, Gräsbeck R, Abdelaal MA, Broch H, Jenner LB, Verroust PJ, Moestrop SK, de la Chapelle A, Krahe R (1999) Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet 21: 309-313
3. Burman JF, Jenkins WJ, Walker-Smith JA, Phillips AD, Sourial NA, Williams CB, Mollin DL (1985) Absent ileal uptake of IF-bound vitamin B12 in vivo in the Imerslund-Grasbeck-syndrome (familial vitamin B12 malabsorption with proteinuria). Gut 26: 311-314
4. Christensen EI, Birn H (2001) Megalin and cubilin: synergistic endocytic receptors in renal proximal tubule. Am J Physiol Renal Physiol 280: F562-F573
5. Kozyraki R, Fyfe J, Verroust PL, Jacobsen C, Dautry-Varsat A, Gburek J, Willnow TE, Christensen EI, Moestrop SK (2001) Megalin-dependent cubilin-mediated endocytosis is a major pathway for the apical uptake of transferrin in polarized epithelia. Proc Natl Acad Sci USA 98: 12491-12496
6. Moestrop SK, Verroust PL (2001) Megalin-and cubilin-mediated endocytosis of protein-bound vitamins, lipids, and hormones in polarized epithelia. Annu Rev Nutr 21: 407-428