Lacaille F, Bratos M, Bouma M E, Jos J, Schmitz J, Rey J
Département de Pédiatrie, CNRS UA 213, Hôpital des Enfants-Malades, Paris.
Arch Fr Pediatr. 1989 Aug-Sep;46(7):491-8.
Anderson's disease is a rare autosomic recessive condition involving the transport of fat through the intestinal mucosa, which could be due to a defect in the intestinal form (B48) of apolipoprotein B. Isolated cases and one important series only have been reported. We wish here to complete the description of the disease. Seven children (age 6 months to 13 years at time of diagnosis) were followed for one month to 15 years. They presented with a malabsorption syndrome, malnutrition, fatty diarrhea (steatorrhea 4-18 g/24 h), failure to thrive (height -1 to -5.5 SD for age) and sometimes disappearance of deep tendon reflexes. Biologically they had signs of malabsorption, hypocalciuria, osteoporosis, low serum iron, decreased levels of vitamins A and E, and hypo-alpha- (50-127 mg/100 ml) and beta- (73-175 mg/100 ml) lipoproteinemia due to decreased levels of plasma cholesterol (40-70 mg/100 ml), and phospholipids (34-67 mg/100 ml); apolipoproteins A1 (26-69 mg/100 ml and B (21-44 mg/100 ml) were also low. After a fatty meal, triglycerides and apolipoproteins did not increase and chylomicrons did not appear. Jejunal biopsies showed the characteristic aspect of enterocytes loaded with lipid droplets. On electron microscopy, these fat droplets were seen in the cytoplasm but neither in the endoplasmic reticulum and the Golgi complex nor in the intercellular spaces. They did not appear to be enclosed in membranes and differed from chylomicrons by their size and density. The disease could thus be due to an abnormal apolipoprotein B48, which would prevent its binding to triglycerides and thus the formation of chylomicrons.
安德森病是一种罕见的常染色体隐性疾病，涉及脂肪通过肠黏膜的转运，这可能是由于载脂蛋白B的肠型（B48）存在缺陷所致。仅报道过个别病例和一个重要的病例系列。我们在此希望完善对该疾病的描述。对7名儿童（诊断时年龄为6个月至13岁）进行了1个月至15年的随访。他们表现出吸收不良综合征、营养不良、脂肪泻（脂肪痢4 - 18克/24小时）、生长发育迟缓（身高低于年龄标准差1至5.5），有时还会出现深部腱反射消失。从生物学角度看，他们有吸收不良、低钙尿症、骨质疏松、血清铁水平低、维生素A和E水平降低以及由于血浆胆固醇（40 - 70毫克/100毫升）和磷脂（34 - 67毫克/100毫升）水平降低导致的低α-（50 - 127毫克/100毫升）和β-（73 - 175毫克/100毫升）脂蛋白血症；载脂蛋白A1（26 - 69毫克/100毫升）和B（21 - 44毫克/100毫升）水平也较低。进食脂肪餐后，甘油三酯和载脂蛋白没有增加，乳糜微粒也未出现。空肠活检显示肠细胞充满脂滴的特征性表现。在电子显微镜下，这些脂滴见于细胞质中，但在内质网、高尔基体复合体以及细胞间隙中均未见到。它们似乎没有被膜包裹，并且在大小和密度上与乳糜微粒不同。因此，该疾病可能是由于载脂蛋白B48异常，这会阻止其与甘油三酯结合，从而阻碍乳糜微粒的形成。
