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تسجيل

Neutrophil Glucose-6-Phosphate Dehydrogenase Deficiency

المؤلف:  Hoffman, R., Benz, E. J., Silberstein, L. E., Heslop, H., Weitz, J., & Salama, M. E.

المصدر:  Hematology : Basic Principles and Practice

الجزء والصفحة:  8th E , P727

2026-07-19

80

 NADPH, the primary substrate for the respiratory burst oxidase, is generated by the first two reactions of the hexose monophosphate shunt pathway, which are catalyzed by G6PD (see Fig.1., reaction 8) and 6-phosphogluconate dehydrogenase (6PGD). The leukocyte and erythrocyte G6PD are encoded by the same gene. Thus a severe deficiency of G6PD in neutrophils can result in a greatly attenuated respiratory burst because of low levels of NADPH. However, the vast majority of individuals with inherited G6PD deficiency do not have problems with a decreased respiratory burst or recurrent infections. A CGD-like syndrome has very rarely been observed in G6PD-deficient patients who have congenital nonspherocytic hemolytic anemia (CNSHA), in whom hemolysis occurs in the absence of redox stress. Even in CNSHA, most G6PD mutations cause the enzyme to decay over a period of days and weeks, so that levels in the short-lived neutrophil usually do not become critically low even in some of the most unstable G6PD variants. A few rare and poorly understood G6PD mutations that cause CNSHA are associated with extremely low (<5 % of normal) levels of G6PD in the neutrophil, resulting in a deficient respiratory burst and CGD-like symptoms. The combi nation of chronic, severe hemolytic anemia, recurrent infections, and the laboratory demonstration of extremely low G6PD levels in neutrophils and erythrocytes serves to distinguish this disease from CGD. The treatment for neutrophil G6PD deficiency is the same as for CGD, except that the efficacy of rIFN-γ has not been demonstrated in the former. The chronic hemolytic anemia is treated by supportive means, including transfusions.

Fig1. REACTIONS OF RESPIRATORY BURST PATHWAY. GSH, Glutathione; GSSG, oxidized glutathione; HOCl, hypochlorous acid; NADPH, nicotinamide adenine dinucleotide phosphate.