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11 Cards in this Set
- Front
- Back
Clinical Chronic Granulomatous Disease
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Inheritance
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X linked recessive (76%) gp9l phox (phagocyte oxidase) gene on Xp21.1;
autosomal recessive (24%) p47 (more common), p67 phox genes on 7q11, 1 q respectively |
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Prenatal
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DNA analysis
Fetal blood sample nitroblue tetrazolium (NBT) reduction assay of fetal leukocytes |
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Incidence
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Approximately 1:250,000 to 500,000; M:F=9:1
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Age at Presentation
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Birth to 1 year old
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Pathogenesis
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Genetically heterogeneous group of immunodeficiency disorders caused by phox
mutations in the nicotinamicle clehydrogenase phosphate (NADPH) oxidase enzyme complex leading to an inability to produce a respiratory burst and defective killing off catalase positive organisms within phagocytic leukocytes; (respiratory burst occurs when NADPH oxidase acts as a catalyst for the production of superoxides and ultimately microbicidal oxidants) |
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Clinical
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Skin
Recurrent pyoderma (Staphyloccus aureus most common), periorificial dermatitis with purulent drainage and regional lymphadenopathy, abcesses (perianal most common), granulomas Mucous Membranes Ulcerative stomatitis, chronic gingivitis Lymph Nodes Suppurative lymphadenitis with abscesses and fistulas (cervical nodes most common) Lungs Pneumonia with abscesses, cavitations, empyema (Staphylococcus, Aspergillosis, Nocardia) Gastrointestinal Tract Hepatosplenornegaly with granulomas, abscesses, chronic diarrhea, malabsorption Musculoskeletal Osteomyelitis (serratia marcescens most common), short stature |
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DDx
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Hyper IgE syndrome
SCID Chediak Higashi syndrome B lymphocyte disorders |
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Lab
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NBT reduction assay: leukocytes unable to reduce dye no blue color change
CBC, erythrocyte sedimentation rate (ESR), immunoglobulin levels, chest x ray, de¬layed hypersensitivity skin test normal Lungs, liver, bone imaging locate occult inflammation; bacterial cultures Immunoblot analysis of defective NADPH enzymes; DNA analysis |
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Management
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Referral to infectious disease special ist antibiotics
Referral to surgery debridement, drainage, access to deeper infections; systemic steroids for obstructive visceral granulomas Referral to dermatologist topical and oral antibiotics, topical corticosteroids, an¬tibacterial cleansers Leukocyte transfusions, subcutaneous gamma interferon, BMT Gene therapy for p47 phox form has been attempted with some persistence of cor-rected leukocytes at 6 months Identify carriers and evaluate for lupus like syndrome |
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Prognosis
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Variable life span depending on control of infections; most with normal I ife span but poor quality of life
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