Survival of an infant with homozygous surfactant protein C (SFTPC) mutation
Identifieur interne : 001050 ( Main/Exploration ); précédent : 001049; suivant : 001051Survival of an infant with homozygous surfactant protein C (SFTPC) mutation
Auteurs : Zeynep Ar Kan-Ayy Ld Z [Turquie] ; Sule Caglayan-Sozmen [Turquie] ; Sakine Is K [Turquie] ; Robin Deterding ; Megan K. Dishop ; Remy Couderc [France] ; Ralph Epaud [France] ; Malek Louha [France] ; Nevin Uzuner [Turquie]Source :
- Pediatric Pulmonology [ 8755-6863 ] ; 2014-03.
Descripteurs français
- KwdFr :
- Anti-inflammatoires (usage thérapeutique), Antibactériens (usage thérapeutique), Azithromycine (usage thérapeutique), Consanguinité, Fratrie, Gènes récessifs, Homozygote, Humains, Hydroxychloroquine (usage thérapeutique), Microscopie électronique, Mutation faux-sens (génétique), Mâle, Méthylprednisolone (usage thérapeutique), Nourrisson, Oxygénothérapie, Pedigree, Phénotype, Poumon (anatomopathologie), Poumon (imagerie diagnostique), Poumon (ultrastructure), Protéine C associée au surfactant pulmonaire (génétique), Protéinose alvéolaire pulmonaire (diagnostic), Protéinose alvéolaire pulmonaire (génétique), Radiographie, Résultat thérapeutique, Syndrome de détresse respiratoire de l'adulte (), Syndrome de détresse respiratoire de l'adulte (génétique), Ventilation artificielle.
- MESH :
- anatomopathologie : Poumon.
- diagnostic : Protéinose alvéolaire pulmonaire.
- génétique : Mutation faux-sens, Protéine C associée au surfactant pulmonaire, Protéinose alvéolaire pulmonaire, Syndrome de détresse respiratoire de l'adulte.
- imagerie diagnostique : Poumon.
- usage thérapeutique : Anti-inflammatoires, Antibactériens, Azithromycine, Hydroxychloroquine, Méthylprednisolone, Poumon.
- Consanguinité, Fratrie, Gènes récessifs, Homozygote, Humains, Microscopie électronique, Mâle, Nourrisson, Oxygénothérapie, Pedigree, Phénotype, Radiographie, Résultat thérapeutique, Syndrome de détresse respiratoire de l'adulte, Ventilation artificielle.
English descriptors
- KwdEn :
- Anti-Bacterial Agents (therapeutic use), Anti-Inflammatory Agents (therapeutic use), Azithromycin (therapeutic use), Consanguinity, Genes, Recessive, Homozygote, Humans, Hydroxychloroquine (therapeutic use), Infant, Lung (diagnostic imaging), Lung (pathology), Lung (ultrastructure), Male, Methylprednisolone (therapeutic use), Microscopy, Electron, Mutation, Missense (genetics), Oxygen Inhalation Therapy, Pedigree, Phenotype, Pulmonary Alveolar Proteinosis (diagnosis), Pulmonary Alveolar Proteinosis (genetics), Pulmonary Surfactant-Associated Protein C (genetics), Radiography, Respiration, Artificial, Respiratory Distress Syndrome, Adult (genetics), Respiratory Distress Syndrome, Adult (therapy), Siblings, Treatment Outcome.
- MESH :
- chemical , genetics : Pulmonary Surfactant-Associated Protein C.
- chemical , therapeutic use : Anti-Bacterial Agents, Anti-Inflammatory Agents, Azithromycin, Hydroxychloroquine, Methylprednisolone.
- diagnosis : Pulmonary Alveolar Proteinosis.
- diagnostic imaging : Lung.
- genetics : Mutation, Missense, Pulmonary Alveolar Proteinosis, Respiratory Distress Syndrome, Adult.
- pathology : Lung.
- therapy : Respiratory Distress Syndrome, Adult.
- ultrastructure : Lung.
- Consanguinity, Genes, Recessive, Homozygote, Humans, Infant, Male, Microscopy, Electron, Oxygen Inhalation Therapy, Pedigree, Phenotype, Radiography, Respiration, Artificial, Siblings, Treatment Outcome.
Abstract
Lung diseases caused by surfactant protein C (SFTPC) mutations are inherited as autosomal traits with variable penetrance and severity or as sporadic disease caused by a de novo mutation on one allele. Here, we report the case of a child surviving with a homozygous surfactant protein C mutation after aggressive clinical management unlike his six siblings who died in infancy. This presentation raises the suspicion of an autosomal recessive inheritence that is discussed in this report. Pediatr Pulmonol. 2014; 49:E112–E115. © 2013 Wiley Periodicals, Inc.
Url:
DOI: 10.1002/ppul.22976
Affiliations:
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Le document en format XML
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Alveolar Proteinosis (diagnosis)</term><term>Pulmonary Alveolar Proteinosis (genetics)</term><term>Pulmonary Surfactant-Associated Protein C (genetics)</term><term>Radiography</term><term>Respiration, Artificial</term><term>Respiratory Distress Syndrome, Adult (genetics)</term><term>Respiratory Distress Syndrome, Adult (therapy)</term><term>Siblings</term><term>Treatment Outcome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Anti-inflammatoires (usage thérapeutique)</term><term>Antibactériens (usage thérapeutique)</term><term>Azithromycine (usage thérapeutique)</term><term>Consanguinité</term><term>Fratrie</term><term>Gènes récessifs</term><term>Homozygote</term><term>Humains</term><term>Hydroxychloroquine (usage thérapeutique)</term><term>Microscopie électronique</term><term>Mutation faux-sens (génétique)</term><term>Mâle</term><term>Méthylprednisolone (usage thérapeutique)</term><term>Nourrisson</term><term>Oxygénothérapie</term><term>Pedigree</term><term>Phénotype</term><term>Poumon (anatomopathologie)</term><term>Poumon (imagerie diagnostique)</term><term>Poumon (ultrastructure)</term><term>Protéine C associée au surfactant pulmonaire (génétique)</term><term>Protéinose alvéolaire pulmonaire (diagnostic)</term><term>Protéinose alvéolaire pulmonaire (génétique)</term><term>Radiographie</term><term>Résultat thérapeutique</term><term>Syndrome de détresse respiratoire de l'adulte ()</term><term>Syndrome de détresse respiratoire de l'adulte (génétique)</term><term>Ventilation artificielle</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>Anti-Bacterial Agents</term><term>Anti-Inflammatory Agents</term><term>Azithromycin</term><term>Hydroxychloroquine</term><term>Methylprednisolone</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Poumon</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Pulmonary Alveolar Proteinosis</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Protéinose alvéolaire pulmonaire</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Lung</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation, Missense</term><term>Pulmonary Alveolar Proteinosis</term><term>Respiratory Distress Syndrome, Adult</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Mutation faux-sens</term><term>Protéine C associée au surfactant pulmonaire</term><term>Protéinose alvéolaire pulmonaire</term><term>Syndrome de détresse respiratoire de l'adulte</term></keywords><keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Poumon</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lung</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Respiratory Distress Syndrome, Adult</term></keywords><keywords scheme="MESH" qualifier="ultrastructure" xml:lang="en"><term>Lung</term></keywords><keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr"><term>Anti-inflammatoires</term><term>Antibactériens</term><term>Azithromycine</term><term>Hydroxychloroquine</term><term>Méthylprednisolone</term><term>Poumon</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Consanguinity</term><term>Genes, Recessive</term><term>Homozygote</term><term>Humans</term><term>Infant</term><term>Male</term><term>Microscopy, Electron</term><term>Oxygen Inhalation Therapy</term><term>Pedigree</term><term>Phenotype</term><term>Radiography</term><term>Respiration, Artificial</term><term>Siblings</term><term>Treatment Outcome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Consanguinité</term><term>Fratrie</term><term>Gènes récessifs</term><term>Homozygote</term><term>Humains</term><term>Microscopie électronique</term><term>Mâle</term><term>Nourrisson</term><term>Oxygénothérapie</term><term>Pedigree</term><term>Phénotype</term><term>Radiographie</term><term>Résultat thérapeutique</term><term>Syndrome de détresse respiratoire de l'adulte</term><term>Ventilation artificielle</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Lung diseases caused by surfactant protein C (SFTPC) mutations are inherited as autosomal traits with variable penetrance and severity or as sporadic disease caused by a de novo mutation on one allele. Here, we report the case of a child surviving with a homozygous surfactant protein C mutation after aggressive clinical management unlike his six siblings who died in infancy. This presentation raises the suspicion of an autosomal recessive inheritence that is discussed in this report. Pediatr Pulmonol. 2014; 49:E112–E115. © 2013 Wiley Periodicals, Inc.</div></front></TEI><affiliations><list><country><li>France</li><li>Turquie</li></country><region><li>Île-de-France</li></region><settlement><li>Créteil</li><li>Paris</li></settlement></list><tree><noCountry><name sortKey="Deterding, Robin" sort="Deterding, Robin" uniqKey="Deterding R" first="Robin" last="Deterding">Robin Deterding</name><name sortKey="Dishop, Megan K" sort="Dishop, Megan K" uniqKey="Dishop M" first="Megan K." last="Dishop">Megan K. Dishop</name></noCountry><country name="Turquie"><noRegion><name sortKey="Ar Kan Yy Ld Z, Zeynep" sort="Ar Kan Yy Ld Z, Zeynep" uniqKey="Ar Kan Yy Ld Z Z" first="Zeynep" last="Ar Kan-Ayy Ld Z">Zeynep Ar Kan-Ayy Ld Z</name></noRegion><name sortKey="Ar Kan Yy Ld Z, Zeynep" sort="Ar Kan Yy Ld Z, Zeynep" uniqKey="Ar Kan Yy Ld Z Z" first="Zeynep" last="Ar Kan-Ayy Ld Z">Zeynep Ar Kan-Ayy Ld Z</name><name sortKey="Caglayan Ozmen, Sule" sort="Caglayan Ozmen, Sule" uniqKey="Caglayan Ozmen S" first="Sule" last="Caglayan-Sozmen">Sule Caglayan-Sozmen</name><name sortKey="Is K, Sakine" sort="Is K, Sakine" uniqKey="Is K S" first="Sakine" last="Is K">Sakine Is K</name><name sortKey="Uzuner, Nevin" sort="Uzuner, Nevin" uniqKey="Uzuner N" first="Nevin" last="Uzuner">Nevin Uzuner</name></country><country name="France"><region name="Île-de-France"><name sortKey="Couderc, Remy" sort="Couderc, Remy" uniqKey="Couderc R" first="Remy" last="Couderc">Remy Couderc</name></region><name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name><name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name><name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name><name sortKey="Louha, Malek" sort="Louha, Malek" uniqKey="Louha M" first="Malek" last="Louha">Malek Louha</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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