We report on seven patients in two unrelated consanguineous Bedouin families with Grasbeck-Imerslund syndrome. Pedigree analysis in Family 1 was suggestive of an X-linked mode of inheritance. Intra- and inter-familial heterogeneity was elicited among the affected children in both families. Two of the affected sibs in each family had raised Hb A2 (>4%) while a third in Family 1 had a raised level of Hb F before treatment. One of the patients developed subacute combined degeneration of the cord at the age of 17 years before the correct diagnosis was made. All abnormalities were corrected following the institution of parenteral cobalamin therapy.
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Proteinuria in cubilin-deficient patients with selective vitamin B12 malabsorption.
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The Minerva Foundation Institute for Medical Research, Biomedicum Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland.
Selective vitamin B(12) malabsorption or Gräsbeck-Imerslund disease (megaloblastic anemia 1) is frequently accompanied by proteinuria. The malabsorption-proteinuric syndrome of Finnish patients is caused by a defect in the multiligand receptor cubilin. We studied the urinary proteins of control subjects and 13 adult patients with three defined cubilin mutations (FM1, FM2, FM3), all diagnosed during childhood and subsequently observed.
View Article and Find Full Text PDFUrinary excretion of intrinsic factor and the receptor for its cobalamin complex in Gräsbeck-Imerslund patients: the disease may have subsets.
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We report on seven patients in two unrelated consanguineous Bedouin families with Grasbeck-Imerslund syndrome. Pedigree analysis in Family 1 was suggestive of an X-linked mode of inheritance. Intra- and inter-familial heterogeneity was elicited among the affected children in both families.
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