By Disease Name > Chronic Granulomatous Disease

Chronic Granulomatous Disease

Top  Previous  Next
often X-linked recessive therefore most patients are men
pathogenesis group of heterogeneous disorders that share an inability to produce respiratory burst
(mnemonic because you cant produce the acute respiratory burst,  you end up with chronic granulomatous lesions in skin, lungs, etc…) ???)
diagnosis NBT reduction assay: leukocytes unable to reduce dye no blue color change
ddx Hyper IgE, SCID, Chediak-Higashi
infections recurrent pyoderma (staph); pneumonia with abscesses, empyema
prognosis depending on control of infections; most with normal life span but poor quality of life
treatment prophylactic antibiotics;  leukocyte transfusions;  bone-marrow transplant