el Bez M, Souid M, Kallel J, Mebazaa R, Ben Dridi M F
Service de Pédiatrie, Hôpital La Rabta, Tunis, Tunisie.
Ann Pediatr (Paris). 1992 May;39(5):305-8.
Imerslund-Najman-Gräsbeck anemia is an infrequent disease with an autosomal recessive pattern of inheritance. The characteristic anomaly is selective malabsorption of vitamin B12 by the ileal mucosa. Diagnosis rests on a positive family history and on the demonstration of megaloblastic anemia with proteinuria. The proteinuria is due to glomerular dysfunction with mesangial proliferation. Management rests on lifelong parenteral administration of vitamin B12. A case of Imerslund anemia with a favorable outcome under vitamin B12 treatment is reported.
伊默斯伦德-纳伊曼-格雷斯贝克贫血是一种罕见疾病,具有常染色体隐性遗传模式。其特征性异常是回肠黏膜对维生素B12的选择性吸收不良。诊断依据是阳性家族史以及巨幼细胞贫血伴蛋白尿的表现。蛋白尿是由于肾小球功能障碍伴系膜增生所致。治疗依赖于终身胃肠外给予维生素B12。本文报道了1例在维生素B12治疗下预后良好的伊默斯伦德贫血病例。