Walser A, Eigenmann H, Gut A
Spital Flawil, Medizinische, Abteilung.
Schweiz Med Wochenschr. 1989 Jul 29;119(30):1053-6.
Selective malabsorption of vitamin B12, or Imerslund-Gräsbeck disease, is a rare congenital condition. The normal ileal uptake of intrinsic-factor-bound vitamin B12 is deficient. Inheritance is autosomal recessive. Megaloblastic anemia generally appears in infancy and is usually accompanied by mild proteinuria. The case is presented of a 19-year-old woman with megaloblastic anemia due to selective vitamin B12 malabsorption. As far as we know this is the only patient in whom the disease appeared so late. Of special interest are also the marginally low Schilling tests of the patient's parents. Further conditions which may lead to vitamin B12 deficiency are also discussed. A hypothesis is put forward concerning the late appearance of the disease in this particular case. Pathophysiologic, nephrologic and genetic aspects of selective vitamin B12 malabsorption are briefly reviewed.
维生素B12选择性吸收不良，即伊默斯伦德-格里斯贝克病，是一种罕见的先天性疾病。正常情况下，回肠对与内因子结合的维生素B12的摄取存在缺陷。其遗传方式为常染色体隐性遗传。巨幼细胞贫血通常在婴儿期出现，且常伴有轻度蛋白尿。本文报告了一名19岁因维生素B12选择性吸收不良导致巨幼细胞贫血的女性病例。据我们所知，这是该疾病出现如此晚的唯一患者。该患者父母的希林试验结果略低也特别值得关注。文中还讨论了可能导致维生素B12缺乏的其他情况。针对该特定病例中疾病出现较晚的情况提出了一种假设。本文简要回顾了维生素B12选择性吸收不良的病理生理、肾脏及遗传学方面。
