無βリポ蛋白血症の赤血球膜病態と血液所見

DOI

書誌事項

タイトル別名
  • Studies on Red Cell Membrane Abnormalities and Blood Findings of Abetalipoproteinemia.

この論文をさがす

説明

An 8-year-old patient was diagnosed as abetalipoproteinemia by confirming the Apo-B deficiency in the patient's serum, in which both apoprotein B-100 and B-48 were totally lacking. Marked decrement of plasma lipids and acanthocytosis (50%) were also observed. In red cell membrane lipids, phosphatidylcholine was decreased. Surprisingly, however, the total amounts of free cholesterol and total phospholipids in red cells were maintained almost normally, in spite of a marked depletion of plasma lipids. The calcium influx was markedly elevated with normal transport of sodium. Supplementary vitamin A, E, and K have been given for 8 years with minimal improvement.

収録刊行物

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ