Respirare ENG

French national reference center for rare respiratory diseases in children (RESPIRARE)

The Necker site provides comprehensive care for rare respiratory pathologies in children, from diagnosis to treatment.

The expertises present are:

  • a pediatric pneumology and allergology department, which has all the technical platforms of the specialty: bronchial endoscopy, functional respiratory tests (rest and effort), epithelial functional explorations;
  • a unit dedicated to sleep exploration and non-invasive ventilation;
  • a specific activity of thoracic surgery, with a multidisciplinary pneumosurgical consultation;
  • a specific activity of thoracic imaging;
  • a specific activity of thoracic pathology;
  • access to all the disciplines necessary for comprehensive multidisciplinary care: cardiology, endocrinology, nutrition, genetics, prenatal screening.

This reference center is affiliated to the Respifil rare diseases healthcare network, to the ERN-LUNG European network .

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Care of pulmonary malformations

Medical
team

Contact us
 

Phone. 01 44 49 48 38

> Send an email

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
En savoir +

  • 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.

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

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.

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

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

Pr Alice Hadchouel Duvergé, vidéo Respirare

Contact information

Necker-Enfants malades university hospital
> Pediatric pneumoallergology department

149 rue de Sèvres
75743 PARIS Cedex 15

> Pediatric welcome booklet

In Necker, the RESPIRARE reference center in brief 

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patients followed at least once a year*
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medical consultations*
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day hospitalizations*
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fully hospitalized patients*
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authorized therapeutic education programs*
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patients trained in therapeutic education*
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current research projects*
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university courses*
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publications*

* data valid for 2020