Medrano-E’Vers A, Morales-Hernández AE, Valencia-López R, Hernández-Salcedo DR

Language: Spanish
References: 14
Page: 407-414
PDF size: 444.16 Kb.

ABSTRACT

Chronic granulomatous disease (CGD) is a genetically heterogeneous condition characterized by recurrent, life-threatening bacterial and fungal infections and granuloma formation. The frequency of CGD, in the United States is approximately 1:250,000 live births. CGD is caused by defects in the phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase, which constitutes the phagocyte oxidase (phox). These genetic defects result in the inability of phagocytes (neutrophils, monocytes, and macrophages) to destroy certain microbes. The diagnosis is made by neutrophil function testing, and then the exact defect is determined by genotyping. Infections are generally caused by catalase-positive micro-organisms (most bacterial and all fungal pathogens are catalase positive). The frequent sites of infection are lung, skin, lymph nodes, and liver. The formation of granulomata is especially problematic in the gastrointestinal and genitourinary tracts. May present at any time from infancy to late adulthood, but the majority of patients are diagnosed as toddlers and children before the age of five years. Whereby emphasis is made on the clinical significance of this case, which occurs in an older adult.

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