French national reference center for rare respiratory diseases in children (RESPIRARE)
The Necker coordinating site is committed to rare respiratory pathologies in children, from diagnosis to treatment, in close interaction with all the other specialties and professions required for comprehensive care of these pathologies, from prenatal to the transition to adulthood, all of which are also present on the site. The pediatric pneumology and allergology department is equipped with all the technical facilities required for this specialty: flexible bronchial endoscopy, interventional endoscopy, respiratory function tests (rest and effort), sleep explorations, epithelial function tests.
Our areas of expertise are:
- Respiratory system malformations, including prenatal diagnosis and thoracic surgery.
- Interstitial pathologies. In particular, the Necker site is leading the way in the innovative treatment of congenital alveolar proteinosis.
- Rare bronchial diseases, including ciliary diseases
- Bronchopulmonary dysplasia
- Chronic respiratory insufficiency, with a unit dedicated to non-invasive ventilation, and a respiratory rehabilitation program.
- A pediatric lung transplant program
This reference center is affiliated to the Respifil rare diseases healthcare network, to the ERN-LUNG European network .
Keywords: Malformation, fibrosis, bronchial dilatation, bronchopulmonary dysplasia, respiratory failure, transplantation.
In case of emergency
Any vital emergency must motivate a call to 15.
The Necker site has an emergency department capable of dealing with respiratory emergencies, 24 hours a day, with on-call specialists.
For children already followed in the department, quick contact can be made with their referring doctor for advice on a change in their child’s condition
– secretary during the week: Phone. +33 (0)1 44 49 48 38
– or post in the hospital ward on weekends: Phone. +33 (0)1 44 49 78 47
- Anomalies of pulmonary vascular development: anomalies of the aortic arches; alveolar-capillary dysplasia and rare pulmonary hypertension in children; arteriovenous malformations; scimitar syndrome; congenital pulmonary lymphangiectasia
- Congenital tracheal malformations
- Pulmonary agenesis / hypoplasia
- Localized airway malformations: congenital malformation of the pulmonary airways; congenital pulmonary sequestration; bronchogenic cyst; congenital lobar emphysema
- Distal pulmonary development abnormalities: bronchopulmonary dysplasia; alveolar pulmonary microlithiasis
- Malformations of the chest wall.
- Anomalies of respiratory development associated with extra-pulmonary malformations: atresia of the esophagus; congenital diaphragm hernia
- Primary ciliary dyskinesias
- Idiopathic bronchiectasis.
- Bronchiolitis obliterans
- Diffuse interstitial lung disease: abnormal surfactant metabolism; pulmonary alveolar proteinosis; infant neuroendocrine cell hyperplasia; chronic eosinophilic pneumonia
- Chronic lung diseases associated with systemic granulomatous diseases: chronic granulomatosis; Langerhansian granulomatosis; childhood sarcoidosis
- Chronic lung diseases associated with systemic diseases with metabolic impairment: Gaucher disease; Niemann-Pick disease; pulmonary glycogenosis
- Chronic lung diseases associated with systemic autoimmune and inflammatory diseases: mixed connectivitis; dermatomyositis and polymyositis; systemic lupus erythematosus; polyarthritis; systemic scleroderma
- Chronic lung diseases associated with systemic diseases with vasculitis: intra-alveolar hemorrhage and pulmonary hemosiderosis; anti-glomerular basement membrane antibody disease (Goodpasture Syndrome); vasculitis associated with cytoplasmic antineutrophilic antibodies
- Chronic cystic lung disease: alpha-1-antitrypsin deficiency; idiopathic spontaneous pneumothorax
- Environmentally related chronic lung diseases: extrinsic allergic alveolitis; allergic bronchopulmonary aspergillosis
- Alveolar hypoventilation syndromes: alveolar hypoventilation of central origin and Ondine’s syndrome; peripheral alveolar hypoventilation
- Pr Christophe Delacourt, pneumo-pediatrician – head of the CRMR
- Pr Jacques de Blic, pneumo-pediatrician
- Dr Rola Abou Taam, pneumo-pediatrician
- Dr Muriel Lebourgeois, pneumo-pediatrician
- Dr Chantal Karila, pneumo-pediatrician
- Dr Alice Hadchouel-Duvergé, pneumo-pediatrician
- Dr David Drummond, pneumo-pediatrician
- Dr Naziha Khen-Dunlop, pediatric thoracic surgeon
- Pr Isabelle Sermet-Gaudelus, pneumo-pediatrician
- Dr Alessandro Amaddeo, pneumo-pediatrician
- Pr Brigitte Fauroux, pneumo-pediatrician
- Dr Laureline Berteloot, radio pediatrician
- Dr Louise Galmiche-Rolland, anatomopathologist
- Non-invasive ventilation of the child
The Necker site is particularly active in research for rare respiratory diseases in children:
- discovery of the gene for alveolar proteinosis, one of the causes of diffuse infiltrative lung disease in children;
- innovative therapies in alveolar proteinosis;
- identification of factors affecting lung development in very prematurity situations;
- national cohort of children with congenital lung malformation;
- new diagnostic approaches for bronchial dilations (excluding cystic fibrosis);
- complete immunological approach to severe asthma, and biotherapies;
- innovative methods of non-invasive ventilation;
- participation in all national protocols on rare respiratory diseases.
Interuniversity diploma in pediatric pulmonology
Paris-Descartes university
University degree in fetal medicine
Paris-Descartes university
2022
– Predicting the risk of respiratory distress in newborns with congenital pulmonary malformations.
Christophe Delacourt, Nathalie Bertille, Laurent J Salomon, Makan Rahshenas, Alexandra Benachi, Arnaud Bonnard, Laure Choupeaux, Virginie Fouquet, Valérie Goua, Frédéric Hameury, Erik Hervieux , Jean-Marie Jouannic, Naziha Khen-Dunlop, Gwenaelle Le Bouar, Jérôme Massardier, Léa Roditis, Jonathan Rosenblatt, Agnès Sartor, Catherine Thong-Vanh, Nathalie Lelong, Babak Khoshnood, for the MALFPULM study group; members of the MALFPULM study group
Eur Respir J, 2022 Feb 3, PMID: 34266941 DOI: 10.1183/13993003.00949-2021
– Reply: Methionine supplementation: potential for improving alveolar macrophage function through reverse cholesterol transport?
Alice Hadchouel, Christophe Delacourt
Eur Respir J, 2022 May 5, PMID: 34857610 DOI: 10.1183/13993003.02937-2021
– ERS statement on paediatric long-term noninvasive respiratory support.
Brigitte Fauroux, François Abel, Alessandro Amaddeo, Elisabetta Bignamini, Elaine Chan, Linda Corel, Renato Cutrera, Refika Ersu, Sophie Installe, Sonia Khirani, Uros Krivec, Omendra Narayan, Joanna MacLean, Valeria Perez De Sa, Marti Pons-Odena, Florian Stehling, Rosario Trindade Ferreira, Stijn Verhulst
Eur Respir J, 2022 Jun 2, PMID: 34916265 DOI: 10.1183/13993003.01404-2021
2021
– Between competence and warmth: the remaining place of the physician in the era of artificial intelligence.
David Drummond
NPJ Digit Med, 2021 May 14, PMID: 33990682 PMCID: PMC8121897 DOI: 10.1038/s41746-021-00457-w
– Modulators of CFTR. Updates on clinical development and future directions.
Emmanuelle Bardin, Alexandra Pastor, Michaela Semeraro, Anita Golec, Kate Hayes, Benoit Chevalier, Farouk Berhal, Guillaume Prestat, Alexandre Hinzpeter, Christine Gravier-Pelletier, Iwona Pranke, Isabelle Sermet-Gaudelus
Eur J Med Chem, 2021 Mar 5, PMID: 33524685 DOI: 10.1016/j.ejmech.2021.113195
2020
– Effectiveness and safety of ruxolitinib for the treatment of refractory systemic idiopathic juvenile arthritis like associated with interstitial lung disease : a case report.
Brigitte Bader-Meunier, Alice Hadchouel, Laureline Berteloot, Laura Polivka, Vivien Béziat, Jean-Laurent Casanova, Romain Lévy
Ann Rheum Dis, 2020 Feb 13, PMID: 32054604 DOI: 10.1136/annrheumdis-2020-216983
– New Insights into Asthma Inflammation: Focus on iNKT, MAIT, and γδT Cells
Jefferson Russo Victor, Guillaume Lezmi, Maria Leite-de-Moraes
Clin Rev Allergy Immunol, 2020 Dec, PMID: 32246390 DOI: 10.1007/s12016-020-08784-8
– Monitoring of Respiratory Muscle Function in Critically Ill Children.
Guillaume Mortamet, Benjamin Crulli, Brigitte Fauroux, Guillaume Emeriaud
Pediatr Crit Care Med, 2020 May, PMID: 32084097 DOI: 10.1097/PCC.0000000000002254
– Usefulness of bronchoalveolar lavage in a French pediatric cohort with hypersensitivity pneumonitis.
Stéphanie Wanin, Clara Malka-Ruimy, Antoine Deschildre, Nadia Nathan, Gabriel Reboux, Philippe Reix, Jacques de Blic, Véronique Houdouin
Pediatr Pulmonol, 2020 Jan, PMID: 31631585 DOI: 10.1002/ppul.24546
– Impact of COVID-19 on people with cystic fibrosis.
Carla Colombo, Pierre-Régis Burgel, Silvia Gartner, Silke van Koningsbruggen-Rietschel, Lutz Naehrlich, Isabelle Sermet-Gaudelus, Kevin W Southern
Lancet Respir Med, 2020 May, PMID: 32304639 PMCID: PMC7159857 DOI: 10.1016/S2213-2600(20)30177-6
– Efficacy of oral ondansetron in acute FPIES: A case series of 6 patients.
Sebastien Le, Delphine de Boissieu, Nicolas Garcelon, Florence Lageix, Hélène Bodilis, Albanne Branellec, Chantal Karila, Hassan Faour, Christophe Delacourt, Guillaume Lezmi
Allergy, 2020 Nov, PMID: 32329084 DOI: 10.1111/all.14335
– Overexpression of Spock2 in mice leads to altered lung alveolar development and worsens lesions induced by hyperoxia.
Alice Hadchouel, Marie-Laure Franco-Montoya, Sophie Guerin, Marcio Do Cruzeiro, Mickaël Lhuillier, Bruno Ribeiro Baptista, Laurent Boyer, Sophie Lanone, Christophe Delacourt
Am J Physiol Lung Cell Mol Physiol, 2020 Jul 1, PMID: 32374670 DOI: 10.1152/ajplung.00191.2019
– Alveolar proteinosis of genetic origins.
Alice Hadchouel, David Drummond, Rola Abou Taam, Muriel Lebourgeois, Christophe Delacourt, Jacques de Blic
Eur Respir Rev, 2020 Oct 28, PMID: 33115790 DOI: 10.1183/16000617.0187-2019
– Non-invasive Ventilation in Children With Neuromuscular Disease.
Brigitte Fauroux, Sonia Khirani, Lucie Griffon, Theo Teng, Agathe Lanzeray, Alessandro Amaddeo
Front Pediatr, 2020 Nov 16, PMID: 33330262 PMCID: PMC7717941 DOI: 10.3389/fped.2020.00482
– Insights into the variability of nasal potential difference, a biomarker of CFTR activity.
Spyridoula Kyrilli, Theophraste Henry, Michael Wilschanski, Isabelle Fajac, Jane C Davies, Jean-Philippe Jais, Isabelle Sermet-Gaudelus
J Cyst Fibros, 2020 Jul, PMID: 31699569 DOI: 10.1016/j.jcf.2019.09.015
– Cerebral oxygenation in children with sleep-disordered breathing.
Laurence Tabone, Sonia Khirani, Alessandro Amaddeo, Guillaume Emeriaud, Brigitte Fauroux
Paediatr Respir Rev, 2020 Apr, PMID: 31753753 DOI: 10.1016/j.prrv.2019.10.002
– Follow-Up and Monitoring of Children Needing Long Term Home Ventilation.
Sonia Khirani, Alessandro Amaddeo, Lucie Griffon, Agathe Lanzeray, Theo Teng, Brigitte Fauroux
Front Pediatr, 2020 Jun 22, PMID: 32656168 PMCID: PMC7322995 DOI: 10.3389/fped.2020.00330
– Non-invasive Ventilation and CPAP Failure in Children and Indications for Invasive Ventilation.
Alessandro Amaddeo, Sonia Khirani, Lucie Griffon, Theo Teng, Agathe Lanzeray, Brigitte Fauroux
Front Pediatr, 2020 Oct 26, PMID: 33194886 PMCID: PMC7649204 DOI: 10.3389/fped.2020.544921
– A critical review of definitions used to describe Pseudomonas aeruginosa microbiological status in patients with cystic fibrosis for application in clinical trials.
G Taccetti, M Denton, K Hayes, ECFS-CTN Microbiology Group; P Drevinek, I Sermet-Gaudelus
J Cyst Fibros, 2020 Jan, PMID: 31526710 DOI: 10.1016/j.jcf.2019.08.014
– Simulation Game Versus Multiple Choice Questionnaire to Assess the Clinical Competence of Medical Students: Prospective Sequential Trial.
Tristan Fonteneau, Elodie Billion, Cindy Abdoul, Sebastien Le, Alice Hadchouel, David Drummond
J Med Internet Res, 2020 Dec 16, PMID: 33325833 PMCID: PMC7773513 DOI: 10.2196/23254
2019
– Polysomnographic findings in Rett syndrome.
Alessandro Amaddeo, Livio De Sanctis, Jorge Olmo Arroyo, Sonia Khirani, Nadia Bahi-Buisson, Brigitte Fauroux
Eur J Paediatr Neurol, 2019 Jan, PMID: 30262236 DOI: 10.1016/j.ejpn.2018.09.003
– Comparison of Pulmonary Function Decline in Steroid-Treated and Steroid-Naïve Patients with Duchenne Muscular Dystrophy.
Hemant Sawnani, Paul S Horn, Brenda Wong, Andrew Darmahkasih, Irina Rybalsky, Karen C Shellenbarger, Cuixia Tian, Meilan M Rutter, Narong Simakajornboon, Raouf Amin, Neepa Gurbani, John Pascoe, Carolyn Burrows, Sonia Khirani, Alessandro Amaddeo, Brigitte Fauroux
J Pediatr, 2019 Jul, PMID: 30955791 DOI: 10.1016/j.jpeds.2019.02.037
– A Treatment-Decision Score for HIV-Infected Children With Suspected Tuberculosis.
Olivier Marcy, Laurence Borand, Vibol Ung, Philippe Msellati, Mathurin Tejiokem, Khanh Truong Huu, Viet Do Chau, Duong Ngoc Tran, Francis Ateba-Ndongo, Suzie Tetang-Ndiang, Boubacar Nacro, Bintou Sanogo, Leakhena Neou, Sophie Goyet, Bunnet Dim, Polidy Pean, Catherine Quillet, Isabelle Fournier, Laureline Berteloot, Guislaine Carcelain, Sylvain Godreuil, Stéphane Blanche, Christophe Delacourt, ANRS 12229 PAANTHER 01 STUDY GROUP
Pediatrics, 2019 Sep, PMID: 31455612 DOI: 10.1542/peds.2018-2065
– Cerebral Oxygenation During Respiratory Events in Children with Sleep-Disordered Breathing and Associated Disorders.
Laurence Tabone, Sonia Khirani, Jorge Olmo Arroyo, Alessandro Amaddeo, Abdelkebir Sabil, Brigitte Fauroux
J Pediatr, 2019 Nov, PMID: 31540763 DOI: 10.1016/j.jpeds.2019.07.040
2018
– Association between asthma and lung function in adolescents born very preterm: results of the EPIPAGE cohort study.
Hadchouel A, Rousseau J, Rozé JC, Arnaud C, Bellino A, Couderc L, Marret S, Mittaine M, Pinquier D, Verstraete M, Ancel PY, Delacourt C; EPIPAGEADO study group.
Thorax. 2018 Mar 31. [Epub ahead of print]
– Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due to GM-CSF receptor deficiency.
Frémond ML, Hadchouel A, Schweitzer C, Berteloot L, Bruneau J, Bonnet C, Cros G, Briand C, Magnani A, Pochon C, Delacourt C, Cavazzana M, Moshous D, Fischer A, Blanche S, Blic J, Neven B.
Thorax. 2018 Jun;73(6):590-592.
2017
– Respiratory Morbidity in Infants Born With a Congenital Lung Malformation.
Delestrain C, Khen-Dunlop N, HadchouelA, Cros P, Ducoin H, Fayon M, Gibertini I, Labbé A, Labouret G, Lebras MN, Lezmi G, Madhi F, Thouvenin G, Thumerelle C, Delacourt C.
Pediatrics. 2017 Mar;139(3). pii: e20162988.
– Combined Effects of in Utero and Adolescent Tobacco Smoke Exposure on Lung Function in C57Bl/6J Mice.
David Drummond, Mélissa Baravalle-Einaudi, Guillaume Lezmi, Shamila Vibhushan, Marie-Laure Franco-Montoya, Alice Hadchouel, Jorge Boczkowski, Christophe Delacourt
Environ Health Perspect, 2017 Mar, PMID: 27814244 PMCID: PMC5332197 DOI: 10.1289/EHP54
– Postnatal management of asymptomatic congenital pulmonary malformations: moving towards evidence-based decisions.
Christophe Delacourt
Arch Dis Child, 2017 Sep, PMID: 28821493 DOI: 10.1136/archdischild-2017-313195
2016
– Pathomechanisms of Congenital Cystic Lung Diseases: Focus on Congenital Cystic Adenomatoid Malformation and Pleuropulmonary Blastoma.
Boucherat O, Jeannotte L, Hadchouel A, Delacourt C, Benachi A.
Paediatr Respir Rev. 2016 Jun;19:62-8
2015
– Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.
Hadchouel A, Wieland T, Griese M, Baruffini E, Lorenz-Depiereux B, Enaud L, Graf E, Dubus JC, Halioui-Louhaichi S, Coulomb A, Delacourt C, Eckstein G, Zarbock R, Schwarzmayr T, Cartault F, Meitinger T, Lodi T, de Blic J, Strom TM.
Am J Hum Genet. 2015 May 7;96(5):826-31
- Association Tremplin Séquence de Pierre Robin
- Association Française de l’Atrésie de l’Œsophage (AFAO)
- Association des patients atteints d’un déficit en Alpha-1 Antitrypsine (ADAAT)
- Association de patients ayant une Dyskinésie Ciliaire Primitive (ADCP)
- Association Française des Pneumopathies Interstitielles de l’Enfant (AFPIE)
- Association Cœur couleur
- Ensemble pour Pedro
- Association française du syndrome d’Ondine (AFS Ondine)
- Association NEHI France
- Association Maladie de Rendu-Osler (AMRO-HHT-France)
- Association Prader-Willi France
- AFM-Téléthon
Pulmonary alveolar proteinosis : a rare lung disease
Le magazine de la santé | 11.19.2021
Pulmonary alveolar proteinosis is a rare lung disease. It is characterized by an accumulation of phospholipoproteinaceous material, proteins and lipids of the surfactant, in the pulmonary alveoli. After years of research, a cure was discovered. This is excellent news for patients who are sometimes very young children, like Aglaé. Professor Aliche Hadchouel-Duvergé, pediatric pulmonologist at the Necker-Enfants Malades hospital, explains the progress made thanks to this new treatment.
> Watch the report
Contact information
Necker-Enfants malades university hospital
> Pediatric pneumoallergology department
149 rue de Sèvres
75743 PARIS Cedex 15
In Necker, the RESPIRARE reference center in brief …
* data valid for 2022