Recurrent diffuse lung disease due to surfactant protein C deficiency.
Identifieur interne : 000091 ( PubMed/Checkpoint ); précédent : 000090; suivant : 000092Recurrent diffuse lung disease due to surfactant protein C deficiency.
Auteurs : Brigitte Kazzi [États-Unis] ; David Lederer [États-Unis] ; Emilio Arteaga-Solis [États-Unis] ; Anjali Saqi [États-Unis] ; Wendy K. Chung [États-Unis]Source :
- Respiratory medicine case reports [ 2213-0071 ] ; 2018.
Abstract
Surfactant protein C (SP-C) deficiency causes diffuse lung disease with variable prognosis and severity that usually presents in infancy. We present the case of a patient with diffuse lung disease who was successfully treated with hydroxychloroquine and steroids in infancy, who presented again as a young adult with respiratory symptoms. Exome sequencing identified a novel de novo SFTPC mutation (c.397A > C p.S133R). Mutated SP-C accumulates and leads to injury of alveolar type II cells, which normally replenish alveolar type I cells after injury. This may explain the symptom recurrence after lung injury in young adulthood. Although hydroxychloroquine has been hypothesized to interfere with mutated SP-C accumulation, data on long term outcome remains limited.
DOI: 10.1016/j.rmcr.2018.07.003
PubMed: 30094155
Affiliations:
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Chung</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, Columbia University Medical Center, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Columbia University Medical Center</wicri:regionArea><wicri:noRegion>Columbia University Medical Center</wicri:noRegion></affiliation></author></analytic><series><title level="j">Respiratory medicine case reports</title><idno type="ISSN">2213-0071</idno><imprint><date when="2018" type="published">2018</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Surfactant protein C (SP-C) deficiency causes diffuse lung disease with variable prognosis and severity that usually presents in infancy. We present the case of a patient with diffuse lung disease who was successfully treated with hydroxychloroquine and steroids in infancy, who presented again as a young adult with respiratory symptoms. Exome sequencing identified a novel <i>de novo SFTPC</i> mutation (c.397A > C p.S133R). Mutated SP-C accumulates and leads to injury of alveolar type II cells, which normally replenish alveolar type I cells after injury. This may explain the symptom recurrence after lung injury in young adulthood. Although hydroxychloroquine has been hypothesized to interfere with mutated SP-C accumulation, data on long term outcome remains limited.</div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">30094155</PMID><DateRevised><Year>2019</Year><Month>11</Month><Day>20</Day></DateRevised><Article PubModel="Electronic-eCollection"><Journal><ISSN IssnType="Print">2213-0071</ISSN><JournalIssue CitedMedium="Print"><Volume>25</Volume><PubDate><Year>2018</Year></PubDate></JournalIssue><Title>Respiratory medicine case reports</Title><ISOAbbreviation>Respir Med Case Rep</ISOAbbreviation></Journal><ArticleTitle>Recurrent diffuse lung disease due to surfactant protein C deficiency.</ArticleTitle><Pagination><MedlinePgn>91-95</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.rmcr.2018.07.003</ELocationID><Abstract><AbstractText>Surfactant protein C (SP-C) deficiency causes diffuse lung disease with variable prognosis and severity that usually presents in infancy. We present the case of a patient with diffuse lung disease who was successfully treated with hydroxychloroquine and steroids in infancy, who presented again as a young adult with respiratory symptoms. Exome sequencing identified a novel <i>de novo SFTPC</i> mutation (c.397A > C p.S133R). Mutated SP-C accumulates and leads to injury of alveolar type II cells, which normally replenish alveolar type I cells after injury. This may explain the symptom recurrence after lung injury in young adulthood. Although hydroxychloroquine has been hypothesized to interfere with mutated SP-C accumulation, data on long term outcome remains limited.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kazzi</LastName><ForeName>Brigitte</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>College of Physicians and Surgeons, Columbia University, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lederer</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Medicine, Columbia University Medical Center, USA.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Epidemiology, Columbia University Medical Center, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Arteaga-Solis</LastName><ForeName>Emilio</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Pathology & Cell Biology, Columbia University Medical Center, 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Chung</name><name sortKey="Lederer, David" sort="Lederer, David" uniqKey="Lederer D" first="David" last="Lederer">David Lederer</name><name sortKey="Saqi, Anjali" sort="Saqi, Anjali" uniqKey="Saqi A" first="Anjali" last="Saqi">Anjali Saqi</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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