Natural history of five children with surfactant protein C mutations and interstitial lung disease
Identifieur interne : 001059 ( Main/Exploration ); précédent : 001058; suivant : 001060Natural history of five children with surfactant protein C mutations and interstitial lung disease
Auteurs : Avraham Avital [Israël] ; Avigdor Hevroni [Israël] ; Simon Godfrey [Israël] ; Shlomo Cohen [Israël] ; Channa Maayan [Israël] ; Samir Nusair [Israël] ; Lawrence M. Nogee [États-Unis] ; Chaim Springer [Israël]Source :
- Pediatric Pulmonology [ 8755-6863 ] ; 2014-11.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Biopsie, Enfant, Femelle, Humains, Hydroxychloroquine (usage thérapeutique), Mutation, Mâle, Pneumopathies interstitielles (anatomopathologie), Pneumopathies interstitielles (génétique), Pneumopathies interstitielles (physiopathologie), Pneumopathies interstitielles (traitement médicamenteux), Poumon (), Poumon (anatomopathologie), Poumon (physiopathologie), Protéine C associée au surfactant pulmonaire (génétique), Tests de la fonction respiratoire.
- MESH :
- anatomopathologie : Pneumopathies interstitielles, Poumon.
- génétique : Pneumopathies interstitielles, Protéine C associée au surfactant pulmonaire.
- physiopathologie : Pneumopathies interstitielles, Poumon.
- traitement médicamenteux : Pneumopathies interstitielles.
- usage thérapeutique : Hydroxychloroquine.
- Adolescent, Adulte, Biopsie, Enfant, Femelle, Humains, Mutation, Mâle, Poumon, Tests de la fonction respiratoire.
English descriptors
- KwdEn :
- Adolescent, Adult, Biopsy, Child, Female, Humans, Hydroxychloroquine (therapeutic use), Lung (drug effects), Lung (pathology), Lung (physiopathology), Lung Diseases, Interstitial (drug therapy), Lung Diseases, Interstitial (genetics), Lung Diseases, Interstitial (pathology), Lung Diseases, Interstitial (physiopathology), Male, Mutation, Pulmonary Surfactant-Associated Protein C (genetics), Respiratory Function Tests.
- MESH :
- chemical , genetics : Pulmonary Surfactant-Associated Protein C.
- chemical , therapeutic use : Hydroxychloroquine.
- drug effects : Lung.
- drug therapy : Lung Diseases, Interstitial.
- genetics : Lung Diseases, Interstitial.
- pathology : Lung, Lung Diseases, Interstitial.
- physiopathology : Lung, Lung Diseases, Interstitial.
- Adolescent, Adult, Biopsy, Child, Female, Humans, Male, Mutation, Respiratory Function Tests.
Abstract
Interstitial lung diseases in infants and children are uncommon and may be caused by specific inborn errors of surfactant metabolism. Five children with open lung biopsy diagnosed interstitial lung disease were followed (mean of 27.2 years) and evaluated for surfactant protein gene mutations. Four of the children were originally diagnosed as desquamative interstitial pneumonitis and one as chronic interstitial pneumonitis. All had good response to chloroquine or hydroxychloroquine treatment for periods of 7–38 months. Lung function tests, incremental exercise tests, and rentgenological studies were performed in the children. Surfactant protein gene mutations were searched in all the patients and in part of their families. Three of the patients, aged now 32, 29, and 37 years, feel well and have normal lung function, while two of the patients, both females, aged 28 and 37 years, conduct normal activities of daily living, have healthy children but have clinical, physiological and rentgenological evidence of restrictive lung disease. All five patients were found to have surfactant protein C gene (SFTPC) mutations, three of them with the most common mutation (p.I73T) and the other two with new mutations of surfactant protein C gene (p.I38F and p.V39L). We conclude that detection of surfactant protein mutations should be attempted in all children presenting with interstitial lung disease. Furthermore, treatment with hydroxychloroquine should be considered in children with SFTPC mutations. Prospective evaluation of hydroxychloroquine therapy in a greater number of patients is needed. Pediatr Pulmonol. 2014; 49:1097–1105. © 2013 Wiley Periodicals, Inc.
Url:
DOI: 10.1002/ppul.22971
Affiliations:
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(genetics)</term><term>Respiratory Function Tests</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Biopsie</term><term>Enfant</term><term>Femelle</term><term>Humains</term><term>Hydroxychloroquine (usage thérapeutique)</term><term>Mutation</term><term>Mâle</term><term>Pneumopathies interstitielles (anatomopathologie)</term><term>Pneumopathies interstitielles (génétique)</term><term>Pneumopathies interstitielles (physiopathologie)</term><term>Pneumopathies interstitielles (traitement médicamenteux)</term><term>Poumon ()</term><term>Poumon (anatomopathologie)</term><term>Poumon (physiopathologie)</term><term>Protéine C associée au surfactant pulmonaire (génétique)</term><term>Tests de la fonction respiratoire</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Pulmonary Surfactant-Associated Protein C</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Hydroxychloroquine</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Pneumopathies interstitielles</term><term>Poumon</term></keywords><keywords scheme="MESH" qualifier="drug effects" xml:lang="en"><term>Lung</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Lung Diseases, Interstitial</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lung Diseases, Interstitial</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Pneumopathies interstitielles</term><term>Protéine C associée au surfactant pulmonaire</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lung</term><term>Lung Diseases, Interstitial</term></keywords><keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Pneumopathies interstitielles</term><term>Poumon</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Lung</term><term>Lung Diseases, Interstitial</term></keywords><keywords scheme="MESH" qualifier="traitement médicamenteux" xml:lang="fr"><term>Pneumopathies interstitielles</term></keywords><keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr"><term>Hydroxychloroquine</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Biopsy</term><term>Child</term><term>Female</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Respiratory Function Tests</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Biopsie</term><term>Enfant</term><term>Femelle</term><term>Humains</term><term>Mutation</term><term>Mâle</term><term>Poumon</term><term>Tests de la fonction respiratoire</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Interstitial lung diseases in infants and children are uncommon and may be caused by specific inborn errors of surfactant metabolism. Five children with open lung biopsy diagnosed interstitial lung disease were followed (mean of 27.2 years) and evaluated for surfactant protein gene mutations. Four of the children were originally diagnosed as desquamative interstitial pneumonitis and one as chronic interstitial pneumonitis. All had good response to chloroquine or hydroxychloroquine treatment for periods of 7–38 months. Lung function tests, incremental exercise tests, and rentgenological studies were performed in the children. Surfactant protein gene mutations were searched in all the patients and in part of their families. Three of the patients, aged now 32, 29, and 37 years, feel well and have normal lung function, while two of the patients, both females, aged 28 and 37 years, conduct normal activities of daily living, have healthy children but have clinical, physiological and rentgenological evidence of restrictive lung disease. All five patients were found to have surfactant protein C gene (SFTPC) mutations, three of them with the most common mutation (p.I73T) and the other two with new mutations of surfactant protein C gene (p.I38F and p.V39L). We conclude that detection of surfactant protein mutations should be attempted in all children presenting with interstitial lung disease. Furthermore, treatment with hydroxychloroquine should be considered in children with SFTPC mutations. Prospective evaluation of hydroxychloroquine therapy in a greater number of patients is needed. Pediatr Pulmonol. 2014; 49:1097–1105. © 2013 Wiley Periodicals, Inc.</div></front></TEI><affiliations><list><country><li>Israël</li><li>États-Unis</li></country><region><li>Maryland</li></region><settlement><li>Baltimore</li></settlement></list><tree><country name="Israël"><noRegion><name sortKey="Avital, Avraham" sort="Avital, Avraham" uniqKey="Avital A" first="Avraham" last="Avital">Avraham Avital</name></noRegion><name sortKey="Avital, Avraham" sort="Avital, Avraham" uniqKey="Avital A" first="Avraham" last="Avital">Avraham Avital</name><name sortKey="Cohen, Shlomo" sort="Cohen, Shlomo" uniqKey="Cohen S" first="Shlomo" last="Cohen">Shlomo Cohen</name><name sortKey="Godfrey, Simon" sort="Godfrey, Simon" uniqKey="Godfrey S" first="Simon" last="Godfrey">Simon Godfrey</name><name sortKey="Hevroni, Avigdor" sort="Hevroni, Avigdor" uniqKey="Hevroni A" first="Avigdor" last="Hevroni">Avigdor Hevroni</name><name sortKey="Maayan, Channa" sort="Maayan, Channa" uniqKey="Maayan C" first="Channa" last="Maayan">Channa Maayan</name><name sortKey="Nusair, Samir" sort="Nusair, Samir" uniqKey="Nusair S" first="Samir" last="Nusair">Samir Nusair</name><name sortKey="Springer, Chaim" sort="Springer, Chaim" uniqKey="Springer C" first="Chaim" last="Springer">Chaim Springer</name></country><country name="États-Unis"><region name="Maryland"><name sortKey="Nogee, Lawrence M" sort="Nogee, Lawrence M" uniqKey="Nogee L" first="Lawrence M." last="Nogee">Lawrence M. 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