Articles Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study
| Autor: | Laurent Savale, Florent Soubrier, Gérald Simonneau, Marilyne Lévy, Peter Dorfmüller, David Amar, Barbara Girerd, Xavier Jaïs, Florence Parent, Elie Fadel, Andrei Seferian, Mélanie Eyries, David Montani, Olivier Sitbon, Marc Humbert, Damien Bonnet, Jérôme Le Pavec, Edmund M.T. Lau |
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| Přispěvatelé: | Centre de Référence de l’Hypertension Pulmonaire Sévère [CHU Le Kremlin Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Service de Pneumologie [AP-HP, Hôpital Bicêtre], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre-DHU Thorax Innovation (TORINO), Hypertension arterielle pulmonaire physiopathologie et innovation thérapeutique, Centre chirurgical Marie Lannelongue-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de chirurgie thoracique et transplantation pulmonaire, Centre chirurgical Marie Lannelongue, Sydney Medical School, University of Sydney, Royal Prince Alfred Hospital, Camperdown, Australia., Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Chirurgical Marie Lannelongue (CCML)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Chirurgical Marie Lannelongue (CCML), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Girerd, Barbara, Assistance publique - Hôpitaux de Paris (AP-HP)-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bicêtre-DHU Thorax Innovation (TORINO), Centre chirurgical Marie Lannelongue-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition ( ICAN ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -CHU Pitié-Salpêtrière [APHP] |
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Male
Lung Neoplasms medicine.medical_treatment Disease 030204 cardiovascular system & hematology [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract 0302 clinical medicine Familial Primary Pulmonary Hypertension Hemangioma Capillary Age of Onset Young adult Child Aged 80 and over education.field_of_study [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology Middle Aged 3. Good health Phenotype Treatment Outcome Child Preschool Female Pulmonary Veno-Occlusive Disease Lung Transplantation Adult Pulmonary and Respiratory Medicine medicine.medical_specialty Adolescent Hypertension Pulmonary Population Protein Serine-Threonine Kinases Disease-Free Survival Young Adult 03 medical and health sciences [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology Internal medicine medicine Humans Lung transplantation education Alleles Aged business.industry Infant Newborn Infant medicine.disease Pulmonary hypertension Surgery Transplantation 030228 respiratory system Mutation [SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract Age of onset business [ SDV.MHEP.PSR ] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology |
| Zdroj: | Lancet Respiratory medicine Lancet Respiratory medicine, Elsevier, 2017, [Epub ahead of print]. ⟨10.1016/S2213-2600(16)30438-6⟩ The Lancet Respiratory Medicine The Lancet Respiratory Medicine, 2017, [Epub ahead of print]. ⟨10.1016/S2213-2600(16)30438-6⟩ Lancet Respiratory medicine, Elsevier, 2017, [Epub ahead of print]. 〈10.1016/S2213-2600(16)30438-6〉 |
| ISSN: | 2213-2600 2213-2619 |
| Popis: | International audience; BackgroundBi-allelic mutations of the EIF2AK4 gene cause heritable pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis (PVOD/PCH). We aimed to assess the eff ect of EIF2AK4 mutations on the clinical phenotypes and outcomes of PVOD/PCH.Methods We did a population-based study using clinical, functional, and haemodynamic data from the registry of the French Pulmonary Hypertension Network. We reviewed the clinical data and outcomes from all patients referred to the French Referral Centre (Pulmonary Department, Hospital Kremlin-Bicêtre, University Paris-Sud) with either confi rmed or highly probable PVOD/PCH with DNA available for mutation screening (excluding patients with other risk factors of pulmonary hypertension, such as chronic respiratory diseases). We sequenced the coding sequence and intronic junctions of the EIF2AK4 gene, and compared clinical characteristics and outcomes between EIF2AK4 mutation carriers and non-carriers. Medical therapies approved for pulmonary arterial hypertension (prostacyclin derivatives, endothelin receptor antagonists and phosphodiesterase type-5 inhibitors) were given to patients according to the clinical judgment and discretion of treating physicians. The primary outcome was the event-free survival (death or transplantation). Secondary outcomes included response to therapies for pulmonary arterial hypertension and survival after lung transplantation. A satisfactory clinical response to specifi c therapy for pulmonary arterial hypertension was defi ned by achieving New York Heart Association functional class I or II, a 6-min walk distance of more than 440 m, and a cardiac index greater than 2·5 L/min per m² at the fi rst reassessment after initiation of specifi c therapy for pulmonary arterial hypertension.Findings We obtained data from Jan 1, 2003, to June 1, 2016, and identifi ed 94 patients with sporadic or heritable PVOD/PCH (confi rmed or highly probable). 27 (29%) of these patients had bi-allelic EIF2AK4 mutations. PVOD/ PCH due to EIF2AK4 mutations occurred from birth to age 50 years, and these patients were younger at presentation than non-carriers (median 26·0 years [range 0–50.3] vs 60·0 years [6·7–81·4] years; p |
| Databáze: | OpenAIRE |
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