Pulmonary manifestations in adult patients with chronic granulomatous disease.

Abstract

Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by failure of superoxide production in phagocytic cells. The disease is characterised by recurrent infections and inflammatory events, frequently affecting the lungs. Improvement of life expectancy now allows most patients to reach adulthood. We aimed to describe the pattern of pulmonary manifestations occurring during adulthood in CGD patients. This was a retrospective study of the French national cohort of adult patients (≥16 years old) with CGD. Medical data were obtained for 67 adult patients. Pulmonary manifestations affected two-thirds of adult patients. Their incidence was significantly higher than in childhood (mean annual rate 0.22 versus 0.07, p=0.01). Infectious risk persisted despite anti-infectious prophylaxis. Invasive fungal infections were frequent (0.11 per year per patient) and asymptomatic in 37% of the cases. They often required lung biopsy for diagnosis (10 out of 30). Noninfectious respiratory events concerned 28% of adult patients, frequently associated with a concomitant fungal infection (40%). They were more frequent in patients with the X-linked form of CGD. Immune-modulator therapies were required in most cases (70%). Respiratory manifestations are major complications of CGD in adulthood. Noninfectious pulmonary manifestations are as deleterious as infectious pneumonia. A specific respiratory monitoring is necessary.

• Authors: Hélène Salvator, Nizar Mahlaoui, Emilie Catherinot, Elisabeth Rivaud, Benoit Pilmis, Raphael Borie, Bruno Crestani, Colas Tcherakian, Felipe Suarez, Bertrand Dunogue, Marie-Anne Gougerot-Pocidalo, Margarita Hurtado-Nedelec, Jean-François Dreyfus, Isabelle Durieu, Fanny Fouyssac, Olivier Hermine, Olivier Lortholary, Alain Fischer, Louis-Jean Couderc
• Journal: The European respiratory journal (Eur Respir J) Vol. 45 Issue 6 Pg. 1613-23 (Jun 2015) ISSN: 1399-3003 [Electronic] England
• PMID: 25614174 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright ©ERS 2015.

Chemical References

• Anti-Infective Agents
• Immunologic Factors
• Membrane Glycoproteins
• CYBB protein, human
• NADPH Oxidase 2
• NADPH Oxidases
• CYBA protein, human
• NCF2 protein, human
• neutrophil cytosolic factor 1

Topics

• Adolescent
• Adult
• Anti-Infective Agents (therapeutic use)
• Asymptomatic Diseases
• Biopsy
• Cohort Studies
• Female
• Granulomatous Disease, Chronic (complications, drug therapy, genetics)
• Humans
• Immunologic Factors (therapeutic use)
• Lung (pathology)
• Lung Diseases (etiology)
• Lung Diseases, Fungal (diagnosis, drug therapy, etiology)
• Male
• Membrane Glycoproteins (genetics)
• Middle Aged
• NADPH Oxidase 2
• NADPH Oxidases (genetics)
• Pneumonia, Bacterial (diagnosis, drug therapy, etiology)
• Retrospective Studies
• Young Adult