Sutter M, Riedler G, Tönz O
Helv Paediatr Acta. 1978 Aug;33(3):267-74.
A 11 1/2-year-old girl of Turkish origin showed symptoms and signs of pernicious anaemia with low B12 level in blood but normal gastric acid secretion. There were no antibodies to mucosal cells or intrinsic factor. Quantitative determination of intrinsic factor in gastric juice, done by a RIA method, proved absence of the factor. Both parents had normal values for haemoglobin, normal B12-absorption tests and slightly decreased B12 blood levels. The gastric acid secretion was normal in both, but intrinsic factor in the gastric juice was decreased markedly. These findings support the hypothesis that congenital pernicious anaemia, e.g. congenital absence of intrinsic factor, is transmitted by an autosomal recessive trait.
一名11岁半的土耳其裔女孩出现恶性贫血的症状和体征，血液中维生素B12水平低，但胃酸分泌正常。没有针对黏膜细胞或内因子的抗体。通过放射免疫分析方法对胃液中的内因子进行定量测定，结果证实该因子缺失。父母双方的血红蛋白值正常，维生素B12吸收试验正常，但血液中维生素B12水平略有下降。两人的胃酸分泌均正常，但胃液中的内因子明显减少。这些发现支持了先天性恶性贫血（例如先天性内因子缺乏）通过常染色体隐性性状遗传的假说。
