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- Title
Reporte de una familia con enfermedad granulomatosa crónica con afección en gp91<sup>phox</sup>.
- Authors
Hernández, Areli García; Reyes, Saúl Lugo; Nakashimada, Marco Antonio Yamazaki; Serrano, María Edith Gonzáles; Rosales, Francisco Espinosa; Galicia, Lizbeth Blancas
- Abstract
The chronic granulomatous disease is a primary immunodeficiency with a defect of the phagocytosis process; its main alteration resides in the incapacity of the NADPH oxidase system to produce reactive oxygen species capable of destruct pathogenic organisms such as bacteria, fungus and mycobacteria. Patients are susceptible to severe and mild infections, mainly pneumonias, linfadenitis and gastroenteritis that tend to be repetitive; in addition, they presented granulomatous inflammation and autoimmunity. We presented the case of two brothers with X-linked chronic granulomatous disease with alteration in the sub-unit gp91phox; heredofamilial background was endogamy and consanguinity. Both patients suffered severe infections, frequent abscesses and a poor growth. Diagnosis was confirmed with nitroblue tetrazolium test. During their evolution, the patients presented also BCGitis, BCGosis and septic shock. They began prophylactic treatment with trimetoprim sulfametoxazole and itraconazole, as well as gamma interferon, with favorable response, presenting a lower amount of infectious episodes, as well as a recovery of their weight and height. The early diagnosis of the patients has improved their prognosis.
- Subjects
CHRONIC granulomatous disease; BACTERIAL disease complications; MYCOBACTERIAL diseases; PHAGOCYTOSIS; ANTIGEN-antibody reactions; NAD (Coenzyme)
- Publication
Revista Alergia de Mexico, 2010, Vol 57, Issue 2, p60
- ISSN
0002-5151
- Publication type
Article