Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France
- 25 February 2017
- journal article
- research article
- Published by Oxford University Press (OUP) in Clinical Infectious Diseases
- Vol. 64 (6), 767-775
- https://doi.org/10.1093/cid/ciw837
Abstract
Although prognosis of Chronic Granulomatous Disease (CGD) has greatly improved, few studies have focused on its long-term outcome. We studied the clinical course and sequelae of CGD patients diagnosed before age 16, at various adult time points. Cross-sectional French nationwide retrospective study of patients screened through the National Reference Center for Primary Immunodeficiencies (CEREDIH) registry. Eighty CGD patients (71 males [88.7%], 59 X-linked [73.7%], median age 23.9 years [minimum, 16.6; maximum, 59.9]) were included, Median ages at diagnosis and last follow-up were 2.52 and 23.9 years, respectively. Seven patients underwent hematopoietic stem cell transplantation. A total of 553 infections requiring hospitalization occurred in 2017 patient-years. The most common site of infection was pulmonary (31%). Aspergillus spp. (17%) and Staphylococcus aureus (10.7%) were the commonest pathogens. A total of 224 inflammatory episodes occurred in 71 patients, mainly digestive (50%). Their characteristics as well as their annual frequency did not vary before and after age 16. Main sequelae were a small adult height and weight and mild chronic restrictive respiratory failure. At age 16, only 53% of patients were in high school. After age 30 years, 9/13 patients were working. Ten patients died during adulthood. Adult CGD patients displayed similar characteristics and rates of severe infections and inflammatory episodes that those of childhood. The high rate of handicap has become a matter of medical and social consideration. Careful follow-up in centers of expertise is strongly recommended and an extended indication of curative treatment by HSCT should be considered.This publication has 36 references indexed in Scilit:
- Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous diseaseJournal of Allergy and Clinical Immunology, 2014
- Efficacy and safety of thalidomide in patients with inflammatory manifestations of chronic granulomatous disease: A retrospective case seriesJournal of Allergy and Clinical Immunology, 2013
- Invasive Mold Infections in Chronic Granulomatous Disease: A 25-Year Retrospective SurveyClinical Infectious Diseases, 2011
- Epidemiology and Outcome of Invasive Fungal Diseases in Patients With Chronic Granulomatous DiseaseThe Pediatric Infectious Disease Journal, 2011
- Hematologically important mutations: X-linked chronic granulomatous disease (third update)Blood Cells, Molecules, and Diseases, 2010
- The French national registry of primary immunodeficiency diseasesClinical Immunology, 2010
- Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update)Blood Cells, Molecules, and Diseases, 2010
- Itraconazole to Prevent Fungal Infections in Chronic Granulomatous DiseaseThe New England Journal of Medicine, 2003
- Chronic Granulomatous Disease: Report on a National Registry of 368 PatientsMedicine, 2000
- Trimethoprim-Sulfamethoxazole Prophylaxis in the Management of Chronic Granulomatous DiseaseThe Journal of Infectious Diseases, 1990