Biemer J J, McCammon R E
J Lab Clin Med. 1975 Apr;85(4):556-65.
A new case of abetalipoproteinemia (ABL) is reported after its recognition during an acquired hemorrhagic disthesis at parturition in a 37-year-old female. The new born infant of that delivery and 4 other first-degree relatives were subsequently studied and found to have hypobetalipoproteinemia (HBL). ABL and HBL, while sharing many clinical and biochemical similarities have, but rarely, been demonstrated within the same kindred and have, therefore, been regarded as different genetic mutations. Analysis of the data in the present and two other reported families indicates that ABL can result from the homozygous inheritance of the same gene which, when present in the heterozygous state, results in HBL't is concluded, therefore, that these cases of ABL have apparently been inherited via a different genetic mutation than most previously reported cases of ABL,and is likely the same gene involved in HBL. The clinical presentation of this form of ABL, that is, familial homozygous hypobetalipoproteinemia, is compared to that of the classical form of ABL.
本文报告了一例新的无β脂蛋白血症（ABL）病例，该病例是在一名37岁女性分娩时出现获得性出血素质期间被确诊的。随后对该产妇的新生儿及其他4名一级亲属进行研究，发现他们患有低β脂蛋白血症（HBL）。ABL和HBL虽然在临床和生化方面有许多相似之处，但在同一家族中同时出现的情况极为罕见，因此被认为是不同的基因突变。对本病例以及其他两个已报道家族的数据进行分析表明，ABL可能是由同一基因的纯合遗传导致的，而该基因处于杂合状态时会导致HBL。因此得出结论，这些ABL病例显然是通过与大多数先前报道的ABL病例不同的基因突变遗传而来的，并且可能与HBL涉及相同的基因。本文将这种形式的ABL，即家族性纯合子低β脂蛋白血症的临床表现与经典形式的ABL进行了比较。
