チェジアック-東症候群における血小板の微小管と巨大顆粒

Platelet Microtubules and Giant Granules in the Chediak-Higashi Syndrome

　臨床的にも検査所見も特徴のあるチェジアック—東症候群（CHS）の小児の血小板が，電顕で検討された，以前にほとんどすべての白血球にみられた異常な巨大顆粒は，末稍血の血小板には余り見出されなかった．円盤状のCHS血小板は，正常な細胞に存在すると同様な環状微小管束を有していた．CHS血小板の微小管は，患者の血小板がコラゲン，寒冷，あるいは冷却と再加温にさらされるとき，正常細胞と同様に反応した．得られた所見は，CHS細胞の機能不全の原因である基本的な異常は，微小管束の欠陥にあるという考えと，対立している．

Platelets from a child with the characteristic clinical and laboratory features of the Chediak-Higashi Syndrome (CHS) were evaluated in the electron microscope. Rare peripheral blood platelets were found to contain the giant abnormal granules observed previously in nearly all leukocytes. The discoid CHS platelets contained circumferential bundles of microtubules identical to those present in normal cells. CHS platelet microtubules responded in the same manner as those in normal cells when patient platelets were exposed to collagen, cold, or to chilling and rewarming. The findings are inconsistent with the concept that a defect in microtubule assembly is the fundamental abnormality responsible for aberrant function of CHS cells.