Kaciński M, Kaczmarski F, Miezyński W, Grzenda-Adamek Z, Miszczuk-Jamska B, Stopyrowa J, Sznajd J
Institute of Paediatrics, Medical Academy Krakow, Poland.
Eur J Pediatr. 1991 Apr;150(6):429-32. doi: 10.1007/BF02093726.
Abetalipoproteinaemia (ABLP) was diagnosed in a brother and sister, 9 and 13 years old, presenting with symptoms of malabsorption during the neonatal period. Both children showed most of the main clinical features of ABLP, including neurological, and ophthalmic symptoms, and mental retardation. Acanthocytosis of erythrocytes was almost complete in the affected children, while in most of the remaining 11 members of their three-generation family, it was found in less than 50% of red blood cells. Absence of apoprotein B and low concentrations of apo A-I and lipids were found only in ABLP-affected children. Among five siblings only the two affected children had ABLP-characteristic lipid storage in enterocytes. The latter features correlated better with clinical symptoms than did the acanthocytosis of erythrocytes.
一名9岁和一名13岁的兄妹被诊断为无β脂蛋白血症（ABLP），他们在新生儿期就出现了吸收不良症状。两个孩子都表现出了ABLP的大多数主要临床特征，包括神经、眼科症状和智力发育迟缓。受影响儿童的红细胞棘形化几乎完全，而在他们三代家族的其余11名成员中，大多数人的红细胞棘形化率不到50%。仅在受ABLP影响的儿童中发现载脂蛋白B缺失以及载脂蛋白A-I和脂质浓度较低。在五个兄弟姐妹中，只有两名受影响的儿童在肠细胞中有ABLP特征性的脂质蓄积。与红细胞棘形化相比，后一种特征与临床症状的相关性更好。
