Abstract
Chronic granulomatous disease (CGD), an X-linked disorder of males, may also occur as an autosomal trait. Detection of the heterozygote by nitroblue tetrazolium dye tests (NBT) and bactericidal studies has not been successful in these families. Leukocytes of patients with CGD fail to show normal increments in respiration (O2 consumption) during phagocytosis of latex particles. A GME Oxygraph Model KM (Gilson) was used to determine phagocytic and basal rates of leukocyte O2 uptake in picomoles O2/min/million cells. A ratio of phagocytic to basal rate (P/B) for leukocytes from a series of normal males, females and children has been reported previously. Two families with clinical CGD non X-linked were studied by NBT dye tests, bactericidal studies and O2 consumption. In one family, 3 girls were affected; the father and brother were not affected and had normal studies but the mother had intermediate bactericidal capacity in one of 3 determinations. She had consistently abnormal O2 uptake (P/B of 2) as compared to normal females who show P/B of 13.3 ± 2.4. In the other family, a male propositus had typical clinical and lab findings of CGD. A male sib and both parents were normal clinically and by usual lab tests, however, the father's cells showed decreased O2 uptake below the average for normal males (P/B of 9 compared to normals of 11.83 ± 1.94).
It is suggested from these studies that leukocyte O2 uptake may be of value in detecting asymptomatic carries of CGD for more precise genetic counseling.
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Kontras, S., Bodenbender, J., Llden, G. et al. Evidence for dominant transmission of chronic granulomatous disease from leukocyte oxygen uptake studies. Pediatr Res 5, 421–422 (1971). https://doi.org/10.1203/00006450-197108000-00211
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DOI: https://doi.org/10.1203/00006450-197108000-00211