医
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脑脓肿、湿疹、肝脾肿大、胃窦狭窄、腹泻
Chronic granulomatous disease (CGD) is an X-linked or autosomal-recessive phagocyte NADPH-oxidase deficiency causing recurrent severe bacterial/fungal infections and granuloma formation due to impaired intracellular killing.
Recurrent lymphadenitis; skin abscesses; pneumonia; osteomyelitis; abscesses; granulomas; Fungal infection
Mutations in genes encoding NADPH-oxidase components (CYBB X-linked, others autosomal recessive) prevent respiratory burst and reactive-oxygen-species production; phagocytes cannot kill catalase-positive organisms (Staph aureus, Aspergillus).
Prophylactic antibiotics/antifungals; IFN-gamma; hematopoietic-stem-cell transplant; gene therapy
Early diagnosis; lifelong prophylaxis; genetic counseling; prompt infection treatment.
It is recommended to visit the Pediatric Hematology department; an appointment can be booked on this platform before the visit.
Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.
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