Survival of an infant with homozygous surfactant protein C (SFTPC) mutation.
Identifieur interne : 000310 ( PubMed/Corpus ); précédent : 000309; suivant : 000311Survival of an infant with homozygous surfactant protein C (SFTPC) mutation.
Auteurs : Zeynep Ar Kan-Ayy Ld Z ; Sule Caglayan-Sozmen ; Sakine Is K ; Robin Deterding ; Megan K. Dishop ; Remy Couderc ; Ralph Epaud ; Malek Louha ; Nevin UzunerSource :
- Pediatric pulmonology [ 1099-0496 ] ; 2014.
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 inheritance that is discussed in this report.
DOI: 10.1002/ppul.22976
PubMed: 24347240
Links to Exploration step
pubmed:24347240Le document en format XML
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<author><name sortKey="Ar Kan Ayy Ld Z, Zeynep" sort="Ar Kan Ayy Ld Z, Zeynep" uniqKey="Ar Kan Ayy Ld Z Z" first="Zeynep" last="Ar Kan-Ayy Ld Z">Zeynep Ar Kan-Ayy Ld Z</name>
<affiliation><nlm:affiliation>Faculty of Medicine, Department of Pediatric Allergy and Pulmonology, Dokuz Eylul University, Izmir, Turkey.</nlm:affiliation>
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<author><name sortKey="Caglayan Sozmen, Sule" sort="Caglayan Sozmen, Sule" uniqKey="Caglayan Sozmen S" first="Sule" last="Caglayan-Sozmen">Sule Caglayan-Sozmen</name>
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<term>Consanguinity</term>
<term>Genes, Recessive</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Hydroxychloroquine (therapeutic use)</term>
<term>Infant</term>
<term>Lung (diagnostic imaging)</term>
<term>Lung (pathology)</term>
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<term>Male</term>
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<term>Oxygen Inhalation Therapy</term>
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<term>Pulmonary Alveolar Proteinosis (genetics)</term>
<term>Pulmonary Surfactant-Associated Protein C (genetics)</term>
<term>Radiography</term>
<term>Respiration, Artificial</term>
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<term>Respiratory Distress Syndrome, Adult (therapy)</term>
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<term>Pulmonary Alveolar Proteinosis</term>
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<keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Respiratory Distress Syndrome, Adult</term>
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<term>Genes, Recessive</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
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<term>Oxygen Inhalation Therapy</term>
<term>Pedigree</term>
<term>Phenotype</term>
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<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 inheritance that is discussed in this report.</div>
</front>
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<Abstract><AbstractText>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 inheritance that is discussed in this report.</AbstractText>
<CopyrightInformation>© 2013 Wiley Periodicals, Inc.</CopyrightInformation>
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