1. Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France
- Author
-
Julie Bardet, Olivier Hermine, Fanny Lanternier, Nicolas Noel, Isabelle Durieu, Agathe Masseau, Olivier Lortholary, Felipe Suarez, Jacinta Bustamante, Bertrand Dunogue, Hélène Salvator, Benoit Pilmis, Marie-Anne Gougerot-Pocidalo, Stéphane Blanche, Fanny Fouyssac, Nizar Mahlaoui, Marc Lecuit, Harry Sokol, Emilie Catherinot, Vincent Barlogis, Caroline Elie, Alain Fischer, Louis-Jean Couderc, Hélène Coignard-Biehler, Karima Amazzough, Centre d'infectiologie Necker-Pasteur [CHU Necker], Institut Pasteur [Paris]-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Département d'Immunologie, hématologie et rhumatologie pédiatriques [Hôpital Necker-Enfants malades - APHP], CHU Necker - Enfants Malades [AP-HP], Génétique Humaine des Maladies Infectieuses (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'informatique médicale et biostatistiques [CHU Necker], Université Paris Descartes - Paris 5 (UPD5), Service de pneumologie [Hôpital Foch], Hôpital Foch [Suresnes], Service de Gastroentérologie et nutrition [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Hématologie et d'Oncologie Pédiatrique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service d'Onco-Hématologie Pédiatrique [CHU Grenoble], Centre Hospitalier Universitaire [Grenoble] (CHU), St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University [New York], Service d'hématologie et immunologie, Université Paris Diderot - Paris 7 (UPD7)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Service de Pédiatrie et Hématologie Pédiatrique [CHU Timone, AP-HM], Hôpital de la Timone [CHU - APHM] (TIMONE), Service de médecine interne, Hôtel-Dieu-Centre hospitalier universitaire de Nantes (CHU Nantes), Service de médecine interne et de pathologie vasculaire [hôpital Lyon sud, HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Microorganismes et Barrières de l'Hôte (Equipe avenir), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Hématologie Adulte, Laboratory of molecular mechanisms of hematologic disorders and therapeutic implications (ERL 8254 - Equipe Inserm U1163), Chaire Médecine expérimentale (A. Fischer), Collège de France (CdF (institution)), Service d'immuno-hématologie pédiatrique [CHU Necker], The CEREDIH is supported by the French Association of Patients with Primary Immunodeficiencies and is funded by the French Ministry of Health. It additionally received unrestricted educational grants from Behring, Baxalta, Octapharma, and the patient associations AT-Europe and Trophée Guillaume., We thank all clinicians of the French national Centre de Référence des Déficits Immunitaires Héréditaires (CEREDIH) network for their help with this study. We also thank the CEREDIH staff: Chantal Andriamanga, Carolina Brito, Laurence Costes, Virginie Courteille, and Nathalie Devergnes., Institut Pasteur [Paris] (IP)-CHU Necker - Enfants Malades [AP-HP], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Service de pédiatrie, d'hématologie et d'oncologie [Hôpital de La Timone - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Collège de France - Chaire Médecine expérimentale (A. Fischer), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pneumologie [Hôpital Foch, Suresnes], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Saint-Antoine [APHP], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), St Giles laboratory of Human Genetics and Infectious Diseases, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris]-Université Paris Diderot - Paris 7 (UPD7), Equipe avenir Microorganismes et Barrières de l'Hôte, and Collège de France (CdF)
- Subjects
Male ,0301 basic medicine ,Pediatrics ,MESH: Registries ,[SDV]Life Sciences [q-bio] ,medicine.medical_treatment ,MESH: Granulomatous Disease, Chronic/diagnosis ,Autoimmunity ,Hematopoietic stem cell transplantation ,chronic granulomatous disease ,MESH: Granulomatous Disease, Chronic/complications ,Granulomatous Disease, Chronic ,0302 clinical medicine ,Chronic granulomatous disease ,Cost of Illness ,[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases ,MESH: Child ,MESH: Bacterial Infections/etiology ,MESH: Bacterial Infections/prevention & control ,Registries ,030212 general & internal medicine ,Child ,[SDV.MP.MYC]Life Sciences [q-bio]/Microbiology and Parasitology/Mycology ,High rate ,MESH: France/epidemiology ,MESH: Granulomatous Disease, Chronic/epidemiology ,MESH: Bacterial Infections/epidemiology ,MESH: Infant, Newborn ,Age Factors ,MESH: Mycoses/epidemiology ,transition ,Bacterial Infections ,sequelae ,MESH: Cost of Illness ,MESH: Infant ,Adult height ,3. Good health ,Phenotype ,[SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology ,Infectious Diseases ,Child, Preschool ,Population Surveillance ,MESH: Mycoses/drug therapy ,MESH: Survival Analysis ,[SDV.IMM]Life Sciences [q-bio]/Immunology ,Female ,France ,Symptom Assessment ,Microbiology (medical) ,medicine.medical_specialty ,adulthood ,Adolescent ,MESH: Mycoses/prevention & control ,primary immunodeficiency ,MESH: Phenotype ,MESH: Population Surveillance ,03 medical and health sciences ,MESH: Cross-Sectional Studies ,MESH: Antibiotic Prophylaxis ,MESH: Autoimmunity ,MESH: Mycoses/etiology ,medicine ,Humans ,In patient ,MESH: Bacterial Infections/drug therapy ,Retrospective Studies ,MESH: Adolescent ,MESH: Age Factors ,MESH: Humans ,business.industry ,MESH: Symptom Assessment ,MESH: Granulomatous Disease, Chronic/mortality ,MESH: Child, Preschool ,Infant, Newborn ,Infant ,MESH: Retrospective Studies ,Retrospective cohort study ,Antibiotic Prophylaxis ,medicine.disease ,Survival Analysis ,[SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology ,MESH: Male ,Cross-Sectional Studies ,030104 developmental biology ,Mycoses ,Respiratory failure ,Primary immunodeficiency ,business ,MESH: Female ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
International audience; 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.
- Published
- 2017
- Full Text
- View/download PDF