chronic granulomatous disease
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Etiology
- mutations involving a component of the NADPH oxidase system
Epidemiology
- rare
- prevalence is about 1 in a million
Pathology
- inability to generate antimicrobial oxygen metabolites
- diminished phagocytic activity of
- phagocytes engulf organisms, but fail to develop the appropriate oxygen burst component of antimicrobial activity
- lack of one of 4 NADPH oxidase subunits in neutrophils, monocytes, eosinophils
Genetics
- X-linked more common than autosomal
- X-linked forms
- defects associated with gp91phox gene
- autosomal recessive form
Clinical manifestations
- severe infections of skin, ears, lungs, liver & bone with catalase-positive micro-organisms
- bacteria
- Pseudomonas cepacia
- Staphylococcus aureus
- Chromobacterium violaceum
- Burkholderia cepacia
- Serratia marcescens
- Nocardia
- fungi: Aspergillus
- bacteria
- excessive inflammation with granulomas
- granulomas may obstruct GI or urinary tract
- frequent lymph node suppuration
- gingivitis
- aphthous ulcers
- seborrheic dermatitis
- generally diagnosed in childhood[2]
Laboratory
- nitroblue tetrazolium (NBT) test: absent production of superoxide & H2O2 by neutrophils
- see ARUP consult[5]
Management
- long-term prophylaxis with trimethoprim-sulfamethoxazole (Bactrim) prolongs infection-free periods without increasing risk of fungal infection
- interferon-gamma
More general terms
- cellular immune dysfunction
- phagocytic disorder
- granulomatous disease
- X-linked disease
- chronic immunologic disease
References
- ↑ Mendelian Inheritance in Man (1990) MIM#306400
- ↑ Jump up to: 2.0 2.1 Medical Knowledge Self Assessment Program (MKSAP) 11, 18. American College of Physicians, Philadelphia 1998, 2018
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 334
- ↑ Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 380
- ↑ Jump up to: 5.0 5.1 ARUP Consult: Chronic Granulomatous Disease - CGD The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/chronic-granulomatous-disease