Strich D, Goldstein R, Phillips A, Shemer R, Goldberg Y, Razin A, Freier S
Department of Pediatrics, Shaare Zedek Hospital, Jerusalem, Israel.
J Pediatr Gastroenterol Nutr. 1993 Apr;16(3):257-64.
We describe three patients with Anderson's disease who are members of one family; the father and mother are close relatives and three of seven children show symptoms of the disease. All patients suffered from diarrhea, failure to thrive, and recurrent infections during infancy. Although these symptoms disappeared later in life, biochemical disorders (such as low plasma levels of apolipoproteins A1 and B and cholesterol, resulting in avitaminosis E, plus failure to secrete chylomicrons after a fat meal) persisted. Electron microscopy of enterocytes of one of the patients showed accumulation of lipid vacuoles with no significant aberration of the Golgi apparatus itself. It is possible, therefore, that the disease reflects a defect in chylomicron assembly. We found that low levels of apolipoprotein (apo) B48 were present in the patients' plasma. This suggests that the processing of the B100 message resulting in apo B48 functions normally. The possibility that a mutation in the apo B gene results in an abnormal apo B48 protein is very unlikely since a variable number tandem repeat (VNTR) polymorphism probe mapped to chromosome 2 failed to show correspondence of the parent alleles with the disease. These observations confirm the suggestion that Anderson's disease is not linked to the apo B locus.
我们描述了来自一个家族的三名患有安德森氏病的患者；父母是近亲，七个孩子中有三个出现了该病症状。所有患者在婴儿期均患有腹泻、发育不良和反复感染。尽管这些症状在后来的生活中消失了，但生化紊乱（如血浆中载脂蛋白A1、B和胆固醇水平低，导致维生素E缺乏，加上餐后不能分泌乳糜微粒）仍然存在。对其中一名患者的肠细胞进行电子显微镜检查发现脂质空泡堆积，而高尔基体本身无明显异常。因此，该病可能反映了乳糜微粒组装缺陷。我们发现患者血浆中载脂蛋白（apo）B48水平较低。这表明导致apo B48的B100信息处理功能正常。apo B基因发生突变导致异常apo B48蛋白的可能性非常小，因为定位到2号染色体的可变数目串联重复（VNTR）多态性探针未能显示亲本等位基因与疾病的对应关系。这些观察结果证实了安德森氏病与apo B基因座无关的观点。
