Format

Send to

Choose Destination
Clin Infect Dis. 2017 Mar 15;64(6):767-775. doi: 10.1093/cid/ciw837.

Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France.

Author information

1
Service de Maladies Infectieuses et Tropicales, Centre d''Infectiologie Necker Pasteur, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France.
2
Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades.
3
Unité d'Immuno-Hématologie et Rhumatologie pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France.
4
Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France.
5
Laboratoire de Génétique Humaine des Maladies Infectieuses, Branche Necker, Inserm U1163.
6
Université Paris Descartes, Faculté de Médecine, EA 4472, Service de Biostatistique et Informatique Médicale Hôpital Universitaire Necker-Enfants Malades, AP-HP.
7
Servicede Maladies Infectieuses et Tropicales, Centre d''Infectiologie Necker Pasteur, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France.
8
Hopital Foch, Service de Pneumologie, Suresnes, France.
9
Service de Gastroentérologie, Hôpital Saint-Antoine, Assistance Publique Hôpitaux de Paris, Université Paris VI, France.
10
Centre Hospitalo-Universitaire Nancy, Onco-hématologie pédiatrique, Hôpital d''Enfants.
11
Centre Hospitalo-Universitaire de Grenoble site Nord, Service d''Onco-Hématologie Pédiatrique, Hôpital Albert Michalon.
12
Laboratoire de Génétique Humaine des Maladies Infectieuses, Branche Necker, Inserm U1163, Paris, France.
13
Centre de reference des deficits immunitaires hérédiataires (CEREDIH), Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Universitaire Necker-Enfants Malades, France.
14
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA.
15
Assistance Publique-Hôpitaux de Paris, Département d''Hématologie et Immunologie Biologiques, CHU Paris Nord-Val de Seine, Hôpital Xavier Bichat-Claude Bernard.
16
Assistance Publique-Hôpitaux de Marseille, Service de Pédiatrie et Hématologie Pédiatrique, CHU de Marseille, Hôpital de la Timone, Marseille.
17
Centre Hospitalo-Universitaire de Nantes, Service de Médecine Interne, Hôpital Hotel Dieu.
18
Centre Hospitalo-Universitaire Lyon, Service de Médecine Interne et Pathologie Vasculaire, Centre Hospitalier Lyon Sud, France.
19
Institut Pasteur, INSERM, Groupe Microorganismes et barrières de l'Hôte, Paris, France.
20
Assistance Publique-Hôpitaux de Paris, Service d''Hématologie Adultes, Hôpital Necker-Enfants Malades, Paris, France et Université Paris Descartes.
21
INSERM U1163 & CNRS ERL 8254, Institut Imagine, Sorbonne Paris Cité, Paris, France.
22
College de France, Paris, France.
23
INSERM UMR 1163, Paris, France.

Abstract

Background:

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.

Method:

Cross-sectional French nationwide retrospective study of patients screened through the National Reference Center for Primary Immunodeficiencies (CEREDIH) registry.

Results:

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.

Conclusions:

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.

KEYWORDS:

adulthood; chronic granulomatous disease; primary immunodeficiency; sequelae; transition

PMID:
28362954
DOI:
10.1093/cid/ciw837
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Silverchair Information Systems
Loading ...
Support Center