ミトコンドリア筋症（ｃｙｔｏｃｈｒｏｍｅ ｃ ｏｘｉｄａｓｅ欠損症）における白血球機能検査の試み

Abstract

We examed the peripheral leukocytes of an 18 year old female case of cytochrome c oxidase (CCO) deficiency, a type of mytochondria myopathy. As neutrophil function test, chemotaxis (Table 2), exocytic release of myeloperoxidase (Table 3), yeast phagocytosis (Table 4), chemiluminescence (Fig. 1) and superoxide generation (Table 5) were measured. Almost all of neutrophil function test of patient were normal. But chemotaxis was better than control. We tested also quantative nitroblue tetrazolium (NBT) reduction test by Baehner using peripheral neutrophils. NBT reduction of patient's neutrophil was ca. 50% of control. This value is almost same as the carrier of chronic granulomatous disease (CGD) (Fig. 2) . By the way, we tried to diagnose CCO deficiency using peripheral leukocytes, instead of the biopsied muscle. CCO activity of isolated lymphocytes from peripheral blood of patient showed only ca. 5% of control (Table 1) . We conclude that it will be possible to diagnose CCO deficiency using peripheral leukocytes.