Heisel M A, Siegel S E, Falk R E, Siegel M M, Carmel R, Lechago J, Skaff G, Roessel T, Nielsen P G, Cummings P
J Pediatr. 1984 Oct;105(4):564-8. doi: 10.1016/s0022-3476(84)80420-5.
Seven children ages 1 1/2 to 12 years with congenital pernicious anemia were detected in an extended Mexican family. All affected children had megaloblastic anemia accompanied by low serum B12 and normal serum folate levels. Gastric fluid analysis in six patients revealed normal gastric acidity and absent intrinsic factor. Serum antibodies to intrinsic factor or parietal cells were also absent. Schilling tests performed in six of the seven patients yielded abnormal results. Of the three patients in whom gastric biopsy was done, two had normal histologic findings (including examination by electron microscopy) and one had mild atrophy. All patients responded rapidly to parenterally administered vitamin B12 therapy. In addition, 170 family members were screened for the defect with complete blood counts and serum B12 levels. Such screening detected pernicious anemia in two of the children, but no other abnormalities that could be attributed to pernicious anemia were found in other family members. Based on the family pedigree, autosomal recessive inheritance is likely. The variability of age of presentation in this family is noteworthy and suggests that expression may be modified by still undefined factors.
在一个庞大的墨西哥家族中发现了7名年龄在1.5岁至12岁之间的患有先天性恶性贫血的儿童。所有患病儿童均患有巨幼细胞贫血，伴有血清维生素B12水平降低和血清叶酸水平正常。6名患者的胃液分析显示胃酸正常且内因子缺乏。血清中也不存在抗内因子或壁细胞抗体。7名患者中的6名进行了希林试验，结果异常。在进行胃活检的3名患者中，2名组织学检查结果正常（包括电子显微镜检查），1名有轻度萎缩。所有患者对胃肠外给予维生素B12治疗反应迅速。此外，对170名家庭成员进行了全血细胞计数和血清维生素B12水平筛查以检测该缺陷。这种筛查在两名儿童中检测到恶性贫血，但在其他家庭成员中未发现可归因于恶性贫血的其他异常。根据家族谱系，可能为常染色体隐性遗传。该家族中发病年龄的变异性值得注意，提示其表达可能受到尚未明确的因素影响。
