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Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.

Identifieur interne : 000D18 ( Main/Exploration ); précédent : 000D17; suivant : 000D19

Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.

Auteurs : Elodie Nattes [France] ; Stephanie Lejeune [France] ; Ania Carsin [France] ; Raphael Borie [France] ; Isabelle Gibertini [France] ; Juan Balinotti [Argentine] ; Nadia Nathan [France] ; Sylvain Marchand-Adam [France] ; Caroline Thumerelle [France] ; Brigitte Fauroux [France] ; Emmanuelle Bosdure [France] ; Veronique Houdouin [France] ; Celine Delestrain [France] ; Malek Louha [France] ; Remy Couderc [France] ; Alix De Becdelievre [France] ; Pascale Fanen [France] ; Benoit Funalot [France] ; Bruno Crestani [France] ; Antoine Deschildre [France] ; Jean-Christophe Dubus [France] ; Ralph Epaud [France]

Source :

RBID : pubmed:28732825

Descripteurs français

English descriptors

Abstract

We retrospectively studied the clinical presentation, treatment modalities and outcome in 16 patients with heterozygous NKX2-1 mutation associated with chronic lung disease. Twelve different NKX2-1 mutations, including 4 novel mutations, were identified in the 16 patients. Nine patients presented with brain-lung-thyroid syndrome, 3 had neurological and lung symptoms and 4 had only pulmonary symptoms. Ten patients had neonatal respiratory distress, and 6 of them developed infiltrative lung disease (ILD). The other patients were diagnosed with ILD in childhood (n = 3) or in adulthood (n = 3). The median age at diagnosis was 36 months (IQ 3.5-95). Patient testing included HRCT (n = 13), BALF analysis (n = 6), lung biopsies (n = 3) and lung function tests (n = 6). Six patients required supplemental oxygen support with a median duration of 18 months (IQ 2.5-29). All symptomatic ILD patients (n = 12) benefited from a treatment consisting of steroids, azithromycin (n = 9), and/or hydroxychloroquine (n = 4). The median follow-up was 36 months (IQ 24-71.5). One patient died of respiratory failure at 18 months and another is waiting for lung transplantation. In summary, the initial diagnosis was based on clinical presentation and radiological features, but the presentation was heterogeneous. Definitive diagnosis required genetic analysis, which should be performed, even in absence of neurological or thyroid symptoms.

DOI: 10.1016/j.rmed.2017.05.014
PubMed: 28732825


Affiliations:


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Le document en format XML

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<wicri:noRegion>Centre Hospitalier Universitaire de Tours</wicri:noRegion>
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</author>
<author>
<name sortKey="Balinotti, Juan" sort="Balinotti, Juan" uniqKey="Balinotti J" first="Juan" last="Balinotti">Juan Balinotti</name>
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<nlm:affiliation>Hospital de Niños Ricardo Gutierrez, Buenos Aires, Argentina.</nlm:affiliation>
<country xml:lang="fr">Argentine</country>
<wicri:regionArea>Hospital de Niños Ricardo Gutierrez, Buenos Aires</wicri:regionArea>
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<author>
<name sortKey="Nathan, Nadia" sort="Nathan, Nadia" uniqKey="Nathan N" first="Nadia" last="Nathan">Nadia Nathan</name>
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<nlm:affiliation>Pediatric Pulmonary Department, AP-HP, Hôpital Trousseau, Paris, France; Centre des Maladies Respiratoires Rare, Respirare(®), Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pediatric Pulmonary Department, AP-HP, Hôpital Trousseau, Paris, France; Centre des Maladies Respiratoires Rare, Respirare(®), Paris</wicri:regionArea>
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<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
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</placeName>
</affiliation>
</author>
<author>
<name sortKey="Marchand Adam, Sylvain" sort="Marchand Adam, Sylvain" uniqKey="Marchand Adam S" first="Sylvain" last="Marchand-Adam">Sylvain Marchand-Adam</name>
<affiliation wicri:level="1">
<nlm:affiliation>Pulmonology Department, Centre Hospitalier Universitaire de Tours, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pulmonology Department, Centre Hospitalier Universitaire de Tours</wicri:regionArea>
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<author>
<name sortKey="Thumerelle, Caroline" sort="Thumerelle, Caroline" uniqKey="Thumerelle C" first="Caroline" last="Thumerelle">Caroline Thumerelle</name>
<affiliation wicri:level="3">
<nlm:affiliation>Pediatric Department, Centre Hospitalier Universitaire de Lille, Lille, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pediatric Department, Centre Hospitalier Universitaire de Lille, Lille</wicri:regionArea>
<placeName>
<region type="region">Hauts-de-France</region>
<region type="old region">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
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</affiliation>
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<author>
<name sortKey="Fauroux, Brigitte" sort="Fauroux, Brigitte" uniqKey="Fauroux B" first="Brigitte" last="Fauroux">Brigitte Fauroux</name>
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<nlm:affiliation>Pediatric Noninvasive Ventilation and Sleep Unit, Hôpital Necker Enfants-Malades, Paris Descartes Faculty, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pediatric Noninvasive Ventilation and Sleep Unit, Hôpital Necker Enfants-Malades, Paris Descartes Faculty, Paris</wicri:regionArea>
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<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
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</affiliation>
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<name sortKey="Bosdure, Emmanuelle" sort="Bosdure, Emmanuelle" uniqKey="Bosdure E" first="Emmanuelle" last="Bosdure">Emmanuelle Bosdure</name>
<affiliation wicri:level="3">
<nlm:affiliation>Pediatric Department, Centre Hospitalier Universitaire Timone Enfants, Marseille, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pediatric Department, Centre Hospitalier Universitaire Timone Enfants, Marseille</wicri:regionArea>
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<region type="region">Provence-Alpes-Côte d'Azur</region>
<region type="old region">Provence-Alpes-Côte d'Azur</region>
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</affiliation>
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<author>
<name sortKey="Houdouin, Veronique" sort="Houdouin, Veronique" uniqKey="Houdouin V" first="Veronique" last="Houdouin">Veronique Houdouin</name>
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<nlm:affiliation>Centre des Maladies Respiratoires Rare, Respirare(®), Paris, France; Pediatric Pulmonary Department, Hôpital Robert Debré, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre des Maladies Respiratoires Rare, Respirare(®), Paris, France; Pediatric Pulmonary Department, Hôpital Robert Debré, Paris</wicri:regionArea>
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<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
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<name sortKey="Delestrain, Celine" sort="Delestrain, Celine" uniqKey="Delestrain C" first="Celine" last="Delestrain">Celine Delestrain</name>
<affiliation wicri:level="3">
<nlm:affiliation>Pediatric Department, Centre Intercommunal de Créteil, Créteil, France; Inserm, Unité 955, Equipe 5, Créteil, France; DHU Ageing Thorax Vessel Blood, Créteil, France; Centre des Maladies Respiratoires Rare, Respirare(®), Paris, France; Université Paris-Est, Faculté de Médecine, Créteil, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pediatric Department, Centre Intercommunal de Créteil, Créteil, France; Inserm, Unité 955, Equipe 5, Créteil, France; DHU Ageing Thorax Vessel Blood, Créteil, France; Centre des Maladies Respiratoires Rare, Respirare(®), Paris, France; Université Paris-Est, Faculté de Médecine, Créteil</wicri:regionArea>
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<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
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</author>
<author>
<name sortKey="Louha, Malek" sort="Louha, Malek" uniqKey="Louha M" first="Malek" last="Louha">Malek Louha</name>
<affiliation wicri:level="3">
<nlm:affiliation>Biochemistry Department, AP-HP, Hôpital Trousseau, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Biochemistry Department, AP-HP, Hôpital Trousseau, Paris</wicri:regionArea>
<placeName>
<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
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<author>
<name sortKey="Couderc, Remy" sort="Couderc, Remy" uniqKey="Couderc R" first="Remy" last="Couderc">Remy Couderc</name>
<affiliation wicri:level="3">
<nlm:affiliation>Biochemistry Department, AP-HP, Hôpital Trousseau, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Biochemistry Department, AP-HP, Hôpital Trousseau, Paris</wicri:regionArea>
<placeName>
<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
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<author>
<name sortKey="De Becdelievre, Alix" sort="De Becdelievre, Alix" uniqKey="De Becdelievre A" first="Alix" last="De Becdelievre">Alix De Becdelievre</name>
<affiliation wicri:level="3">
<nlm:affiliation>Inserm, Unité 955, Equipe 5, Créteil, France; DHU Ageing Thorax Vessel Blood, Créteil, France; Genetic Department, AP-HP, Hôpital Henri Mondor, Créteil, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm, Unité 955, Equipe 5, Créteil, France; DHU Ageing Thorax Vessel Blood, Créteil, France; Genetic Department, AP-HP, Hôpital Henri Mondor, Créteil</wicri:regionArea>
<placeName>
<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Créteil</settlement>
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</affiliation>
</author>
<author>
<name sortKey="Fanen, Pascale" sort="Fanen, Pascale" uniqKey="Fanen P" first="Pascale" last="Fanen">Pascale Fanen</name>
<affiliation wicri:level="3">
<nlm:affiliation>Inserm, Unité 955, Equipe 5, Créteil, France; DHU Ageing Thorax Vessel Blood, Créteil, France; Centre des Maladies Respiratoires Rare, Respirare(®), Paris, France; Université Paris-Est, Faculté de Médecine, Créteil, France; Genetic Department, AP-HP, Hôpital Henri Mondor, Créteil, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm, Unité 955, Equipe 5, Créteil, France; DHU Ageing Thorax Vessel Blood, Créteil, France; Centre des Maladies Respiratoires Rare, Respirare(®), Paris, France; Université Paris-Est, Faculté de Médecine, Créteil, France; Genetic Department, AP-HP, Hôpital Henri Mondor, Créteil</wicri:regionArea>
<placeName>
<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Créteil</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Funalot, Benoit" sort="Funalot, Benoit" uniqKey="Funalot B" first="Benoit" last="Funalot">Benoit Funalot</name>
<affiliation wicri:level="3">
<nlm:affiliation>Université Paris-Est, Faculté de Médecine, Créteil, France; Genetic Department, AP-HP, Hôpital Henri Mondor, Créteil, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université Paris-Est, Faculté de Médecine, Créteil, France; Genetic Department, AP-HP, Hôpital Henri Mondor, Créteil</wicri:regionArea>
<placeName>
<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Créteil</settlement>
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<author>
<name sortKey="Crestani, Bruno" sort="Crestani, Bruno" uniqKey="Crestani B" first="Bruno" last="Crestani">Bruno Crestani</name>
<affiliation wicri:level="3">
<nlm:affiliation>Pulmonology Department, AP-HP, Hôpital Bichat, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pulmonology Department, AP-HP, Hôpital Bichat, Paris</wicri:regionArea>
<placeName>
<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
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<name sortKey="Deschildre, Antoine" sort="Deschildre, Antoine" uniqKey="Deschildre A" first="Antoine" last="Deschildre">Antoine Deschildre</name>
<affiliation wicri:level="3">
<nlm:affiliation>Pediatric Department, Centre Hospitalier Universitaire de Lille, Lille, France; Centre des Maladies Respiratoires Rare, Respirare(®), Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pediatric Department, Centre Hospitalier Universitaire de Lille, Lille, France; Centre des Maladies Respiratoires Rare, Respirare(®), Paris</wicri:regionArea>
<placeName>
<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
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<name sortKey="Dubus, Jean Christophe" sort="Dubus, Jean Christophe" uniqKey="Dubus J" first="Jean-Christophe" last="Dubus">Jean-Christophe Dubus</name>
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<nlm:affiliation>Pediatric Department, Centre Hospitalier Universitaire de Lille, Lille, France; Centre des Maladies Respiratoires Rare, Respirare(®), Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pediatric Department, Centre Hospitalier Universitaire de Lille, Lille, France; Centre des Maladies Respiratoires Rare, Respirare(®), Paris</wicri:regionArea>
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<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
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<name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name>
<affiliation wicri:level="3">
<nlm:affiliation>Pediatric Department, Centre Intercommunal de Créteil, Créteil, France; Inserm, Unité 955, Equipe 5, Créteil, France; DHU Ageing Thorax Vessel Blood, Créteil, France; Centre des Maladies Respiratoires Rare, Respirare(®), Paris, France; Université Paris-Est, Faculté de Médecine, Créteil, France. Electronic address: ralph.epaud@chicreteil.fr.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pediatric Department, Centre Intercommunal de Créteil, Créteil, France; Inserm, Unité 955, Equipe 5, Créteil, France; DHU Ageing Thorax Vessel Blood, Créteil, France; Centre des Maladies Respiratoires Rare, Respirare(®), Paris, France; Université Paris-Est, Faculté de Médecine, Créteil</wicri:regionArea>
<placeName>
<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Créteil</settlement>
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</affiliation>
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<series>
<title level="j">Respiratory medicine</title>
<idno type="eISSN">1532-3064</idno>
<imprint>
<date when="2017" type="published">2017</date>
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<term>Adolescent</term>
<term>Adult</term>
<term>Athetosis (complications)</term>
<term>Athetosis (genetics)</term>
<term>Athetosis (pathology)</term>
<term>Bronchoalveolar Lavage Fluid (chemistry)</term>
<term>Child</term>
<term>Chorea (complications)</term>
<term>Chorea (genetics)</term>
<term>Chorea (pathology)</term>
<term>Congenital Hypothyroidism (complications)</term>
<term>Congenital Hypothyroidism (genetics)</term>
<term>Congenital Hypothyroidism (pathology)</term>
<term>Female</term>
<term>France (epidemiology)</term>
<term>Genes, Homeobox</term>
<term>Humans</term>
<term>Lung Diseases (complications)</term>
<term>Lung Diseases (genetics)</term>
<term>Lung Diseases (pathology)</term>
<term>Lung Diseases (therapy)</term>
<term>Lung Diseases, Interstitial (complications)</term>
<term>Lung Diseases, Interstitial (diagnostic imaging)</term>
<term>Lung Diseases, Interstitial (genetics)</term>
<term>Lung Diseases, Interstitial (physiopathology)</term>
<term>Lung Diseases, Interstitial (therapy)</term>
<term>Male</term>
<term>Mutation</term>
<term>Prognosis</term>
<term>Pulmonary Alveolar Proteinosis (complications)</term>
<term>Pulmonary Alveolar Proteinosis (genetics)</term>
<term>Pulmonary Surfactant-Associated Protein B (deficiency)</term>
<term>Pulmonary Surfactant-Associated Protein B (genetics)</term>
<term>Pulmonary Surfactants (metabolism)</term>
<term>Respiratory Distress Syndrome, Newborn (complications)</term>
<term>Respiratory Distress Syndrome, Newborn (etiology)</term>
<term>Respiratory Distress Syndrome, Newborn (genetics)</term>
<term>Respiratory Distress Syndrome, Newborn (pathology)</term>
<term>Respiratory Function Tests (methods)</term>
<term>Retrospective Studies</term>
<term>Thyroid Nuclear Factor 1 (genetics)</term>
<term>Tomography, X-Ray Computed</term>
<term>Treatment Outcome</term>
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<term>Adolescent</term>
<term>Adulte</term>
<term>Athétose ()</term>
<term>Athétose (anatomopathologie)</term>
<term>Athétose (génétique)</term>
<term>Chorée ()</term>
<term>Chorée (anatomopathologie)</term>
<term>Chorée (génétique)</term>
<term>Enfant</term>
<term>Femelle</term>
<term>France (épidémiologie)</term>
<term>Gènes homéotiques</term>
<term>Humains</term>
<term>Hypothyroïdie congénitale ()</term>
<term>Hypothyroïdie congénitale (anatomopathologie)</term>
<term>Hypothyroïdie congénitale (génétique)</term>
<term>Liquide de lavage bronchoalvéolaire ()</term>
<term>Maladies pulmonaires ()</term>
<term>Maladies pulmonaires (anatomopathologie)</term>
<term>Maladies pulmonaires (génétique)</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Pneumopathies interstitielles ()</term>
<term>Pneumopathies interstitielles (génétique)</term>
<term>Pneumopathies interstitielles (imagerie diagnostique)</term>
<term>Pneumopathies interstitielles (physiopathologie)</term>
<term>Pronostic</term>
<term>Protéine B associée au surfactant pulmonaire (déficit)</term>
<term>Protéine B associée au surfactant pulmonaire (génétique)</term>
<term>Protéinose alvéolaire pulmonaire ()</term>
<term>Protéinose alvéolaire pulmonaire (génétique)</term>
<term>Résultat thérapeutique</term>
<term>Surfactants pulmonaires (métabolisme)</term>
<term>Syndrome de détresse respiratoire du nouveau-né ()</term>
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<term>Syndrome de détresse respiratoire du nouveau-né (génétique)</term>
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<term>Tests de la fonction respiratoire ()</term>
<term>Tomodensitométrie</term>
<term>Études rétrospectives</term>
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<term>Pulmonary Surfactant-Associated Protein B</term>
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<term>Athétose</term>
<term>Chorée</term>
<term>Hypothyroïdie congénitale</term>
<term>Maladies pulmonaires</term>
<term>Syndrome de détresse respiratoire du nouveau-né</term>
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<term>Bronchoalveolar Lavage Fluid</term>
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<term>Athetosis</term>
<term>Chorea</term>
<term>Congenital Hypothyroidism</term>
<term>Lung Diseases</term>
<term>Lung Diseases, Interstitial</term>
<term>Pulmonary Alveolar Proteinosis</term>
<term>Respiratory Distress Syndrome, Newborn</term>
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<keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en">
<term>Lung Diseases, Interstitial</term>
</keywords>
<keywords scheme="MESH" qualifier="déficit" xml:lang="fr">
<term>Protéine B associée au surfactant pulmonaire</term>
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<term>France</term>
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<keywords scheme="MESH" qualifier="etiology" xml:lang="en">
<term>Respiratory Distress Syndrome, Newborn</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Athetosis</term>
<term>Chorea</term>
<term>Congenital Hypothyroidism</term>
<term>Lung Diseases</term>
<term>Lung Diseases, Interstitial</term>
<term>Pulmonary Alveolar Proteinosis</term>
<term>Pulmonary Surfactant-Associated Protein B</term>
<term>Respiratory Distress Syndrome, Newborn</term>
<term>Thyroid Nuclear Factor 1</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr">
<term>Athétose</term>
<term>Chorée</term>
<term>Hypothyroïdie congénitale</term>
<term>Maladies pulmonaires</term>
<term>Pneumopathies interstitielles</term>
<term>Protéine B associée au surfactant pulmonaire</term>
<term>Protéinose alvéolaire pulmonaire</term>
<term>Syndrome de détresse respiratoire du nouveau-né</term>
</keywords>
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<term>Pneumopathies interstitielles</term>
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<term>Pulmonary Surfactants</term>
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<term>Respiratory Function Tests</term>
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<term>Surfactants pulmonaires</term>
</keywords>
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<term>Athetosis</term>
<term>Chorea</term>
<term>Congenital Hypothyroidism</term>
<term>Lung Diseases</term>
<term>Respiratory Distress Syndrome, Newborn</term>
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<term>Pneumopathies interstitielles</term>
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<term>Lung Diseases, Interstitial</term>
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<term>Lung Diseases</term>
<term>Lung Diseases, Interstitial</term>
</keywords>
<keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr">
<term>France</term>
</keywords>
<keywords scheme="MESH" qualifier="étiologie" xml:lang="fr">
<term>Syndrome de détresse respiratoire du nouveau-né</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Adolescent</term>
<term>Adult</term>
<term>Child</term>
<term>Female</term>
<term>Genes, Homeobox</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Prognosis</term>
<term>Retrospective Studies</term>
<term>Tomography, X-Ray Computed</term>
<term>Treatment Outcome</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr">
<term>Adolescent</term>
<term>Adulte</term>
<term>Athétose</term>
<term>Chorée</term>
<term>Enfant</term>
<term>Femelle</term>
<term>Gènes homéotiques</term>
<term>Humains</term>
<term>Hypothyroïdie congénitale</term>
<term>Liquide de lavage bronchoalvéolaire</term>
<term>Maladies pulmonaires</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Pneumopathies interstitielles</term>
<term>Pronostic</term>
<term>Protéinose alvéolaire pulmonaire</term>
<term>Résultat thérapeutique</term>
<term>Syndrome de détresse respiratoire du nouveau-né</term>
<term>Tests de la fonction respiratoire</term>
<term>Tomodensitométrie</term>
<term>Études rétrospectives</term>
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</teiHeader>
<front>
<div type="abstract" xml:lang="en">We retrospectively studied the clinical presentation, treatment modalities and outcome in 16 patients with heterozygous NKX2-1 mutation associated with chronic lung disease. Twelve different NKX2-1 mutations, including 4 novel mutations, were identified in the 16 patients. Nine patients presented with brain-lung-thyroid syndrome, 3 had neurological and lung symptoms and 4 had only pulmonary symptoms. Ten patients had neonatal respiratory distress, and 6 of them developed infiltrative lung disease (ILD). The other patients were diagnosed with ILD in childhood (n = 3) or in adulthood (n = 3). The median age at diagnosis was 36 months (IQ 3.5-95). Patient testing included HRCT (n = 13), BALF analysis (n = 6), lung biopsies (n = 3) and lung function tests (n = 6). Six patients required supplemental oxygen support with a median duration of 18 months (IQ 2.5-29). All symptomatic ILD patients (n = 12) benefited from a treatment consisting of steroids, azithromycin (n = 9), and/or hydroxychloroquine (n = 4). The median follow-up was 36 months (IQ 24-71.5). One patient died of respiratory failure at 18 months and another is waiting for lung transplantation. In summary, the initial diagnosis was based on clinical presentation and radiological features, but the presentation was heterogeneous. Definitive diagnosis required genetic analysis, which should be performed, even in absence of neurological or thyroid symptoms.</div>
</front>
</TEI>
<affiliations>
<list>
<country>
<li>Argentine</li>
<li>France</li>
</country>
<region>
<li>Hauts-de-France</li>
<li>Nord-Pas-de-Calais</li>
<li>Provence-Alpes-Côte d'Azur</li>
<li>Île-de-France</li>
</region>
<settlement>
<li>Créteil</li>
<li>Lille</li>
<li>Marseille</li>
<li>Paris</li>
</settlement>
</list>
<tree>
<country name="France">
<region name="Île-de-France">
<name sortKey="Nattes, Elodie" sort="Nattes, Elodie" uniqKey="Nattes E" first="Elodie" last="Nattes">Elodie Nattes</name>
</region>
<name sortKey="Borie, Raphael" sort="Borie, Raphael" uniqKey="Borie R" first="Raphael" last="Borie">Raphael Borie</name>
<name sortKey="Bosdure, Emmanuelle" sort="Bosdure, Emmanuelle" uniqKey="Bosdure E" first="Emmanuelle" last="Bosdure">Emmanuelle Bosdure</name>
<name sortKey="Carsin, Ania" sort="Carsin, Ania" uniqKey="Carsin A" first="Ania" last="Carsin">Ania Carsin</name>
<name sortKey="Couderc, Remy" sort="Couderc, Remy" uniqKey="Couderc R" first="Remy" last="Couderc">Remy Couderc</name>
<name sortKey="Crestani, Bruno" sort="Crestani, Bruno" uniqKey="Crestani B" first="Bruno" last="Crestani">Bruno Crestani</name>
<name sortKey="De Becdelievre, Alix" sort="De Becdelievre, Alix" uniqKey="De Becdelievre A" first="Alix" last="De Becdelievre">Alix De Becdelievre</name>
<name sortKey="Delestrain, Celine" sort="Delestrain, Celine" uniqKey="Delestrain C" first="Celine" last="Delestrain">Celine Delestrain</name>
<name sortKey="Deschildre, Antoine" sort="Deschildre, Antoine" uniqKey="Deschildre A" first="Antoine" last="Deschildre">Antoine Deschildre</name>
<name sortKey="Dubus, Jean Christophe" sort="Dubus, Jean Christophe" uniqKey="Dubus J" first="Jean-Christophe" last="Dubus">Jean-Christophe Dubus</name>
<name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name>
<name sortKey="Fanen, Pascale" sort="Fanen, Pascale" uniqKey="Fanen P" first="Pascale" last="Fanen">Pascale Fanen</name>
<name sortKey="Fauroux, Brigitte" sort="Fauroux, Brigitte" uniqKey="Fauroux B" first="Brigitte" last="Fauroux">Brigitte Fauroux</name>
<name sortKey="Funalot, Benoit" sort="Funalot, Benoit" uniqKey="Funalot B" first="Benoit" last="Funalot">Benoit Funalot</name>
<name sortKey="Gibertini, Isabelle" sort="Gibertini, Isabelle" uniqKey="Gibertini I" first="Isabelle" last="Gibertini">Isabelle Gibertini</name>
<name sortKey="Houdouin, Veronique" sort="Houdouin, Veronique" uniqKey="Houdouin V" first="Veronique" last="Houdouin">Veronique Houdouin</name>
<name sortKey="Lejeune, Stephanie" sort="Lejeune, Stephanie" uniqKey="Lejeune S" first="Stephanie" last="Lejeune">Stephanie Lejeune</name>
<name sortKey="Louha, Malek" sort="Louha, Malek" uniqKey="Louha M" first="Malek" last="Louha">Malek Louha</name>
<name sortKey="Marchand Adam, Sylvain" sort="Marchand Adam, Sylvain" uniqKey="Marchand Adam S" first="Sylvain" last="Marchand-Adam">Sylvain Marchand-Adam</name>
<name sortKey="Nathan, Nadia" sort="Nathan, Nadia" uniqKey="Nathan N" first="Nadia" last="Nathan">Nadia Nathan</name>
<name sortKey="Thumerelle, Caroline" sort="Thumerelle, Caroline" uniqKey="Thumerelle C" first="Caroline" last="Thumerelle">Caroline Thumerelle</name>
</country>
<country name="Argentine">
<noRegion>
<name sortKey="Balinotti, Juan" sort="Balinotti, Juan" uniqKey="Balinotti J" first="Juan" last="Balinotti">Juan Balinotti</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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