Burman J F, Jenkins W J, Walker-Smith J A, Phillips A D, Sourial N A, Williams C B, Mollin D L
Gut. 1985 Mar;26(3):311-4. doi: 10.1136/gut.26.3.311.
A Syrian family is described with three children who had inherited selective vitamin B12 malabsorption associated with proteinuria. (Imerslund-Grasbeck syndrome). Although inherited the defect was apparently not present at birth. A third child had less severe vitamin B12 malabsorption, was not vitamin B12 deficient and had no proteinuria. Studies on two of the affected children with subcellular fractionation of the uptake of radioactive vitamin B12 by ileal tissue in vivo indicate a defect in the ileal receptors for IF-bound vitamin B12. These findings are different from the single in vitro experiment on a patient with this condition that has been previously reported.
描述了一个叙利亚家庭，家中三个孩子遗传了与蛋白尿相关的选择性维生素B12吸收不良（Imerslund-Grasbeck综合征）。尽管是遗传的，但这种缺陷在出生时显然并不存在。第三个孩子的维生素B12吸收不良较轻，没有维生素B12缺乏症，也没有蛋白尿。对两名受影响儿童进行的体内回肠组织对放射性维生素B12摄取的亚细胞分级分离研究表明，结合内因子的维生素B12的回肠受体存在缺陷。这些发现与先前报道的针对一名患有这种疾病的患者进行的单一体外实验不同。
