An SFTPC gene mutation causes childhood interstitial lung disease: first report in the Arab region
Identifieur interne : 000220 ( Main/Exploration ); précédent : 000219; suivant : 000221An SFTPC gene mutation causes childhood interstitial lung disease: first report in the Arab region
Auteurs : Mohammed A. Alzaid [Arabie saoudite] ; Safa Eltahir [Arabie saoudite] ; Muhammad Amin Ur Rahman [Arabie saoudite] ; Wadha Alotaibi [Arabie saoudite] ; Khalid Mobaireek [Arabie saoudite]Source :
- JRSM Open [ 2054-2704 ] ; 2020.
Abstract
Surfactant protein C dysfunction is one of the causes of childhood interstitial lung disease but has not previously been reported in Arabian countries.
A six-year-old girl had presented at the age of eight months old with bronchiolitis followed by a persistent cough, dyspnea and hypoxaemia. She was found to have gastroesophageal reflux disease, but her symptoms did not resolve despite her therapy being optimised. Further tests, including a chest computed tomographic scan, lung biopsy and genetic testing, confirmed a diagnosis of surfactant protein C dysfunction.
We report the first case in the Arab region of childhood interstitial lung disease caused by surfactant protein C deficiency.
Url:
DOI: 10.1177/2054270419894821
PubMed: 32095252
PubMed Central: 7011330
Affiliations:
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lung disease: first report in the Arab region</title><author><name sortKey="Alzaid, Mohammed A" sort="Alzaid, Mohammed A" uniqKey="Alzaid M" first="Mohammed A" last="Alzaid">Mohammed A. Alzaid</name><affiliation wicri:level="1"><nlm:aff id="aff1-2054270419894821">Pediatric Department, King Fahad Medical City, Saudi Arabia</nlm:aff><country xml:lang="fr">Arabie saoudite</country><wicri:regionArea>Pediatric Department, King Fahad Medical City</wicri:regionArea><wicri:noRegion>King Fahad Medical City</wicri:noRegion></affiliation></author><author><name sortKey="Eltahir, Safa" sort="Eltahir, Safa" uniqKey="Eltahir S" first="Safa" last="Eltahir">Safa Eltahir</name><affiliation wicri:level="1"><nlm:aff id="aff2-2054270419894821">Pathology Department, King Fahad Medical City, Saudi Arabia</nlm:aff><country xml:lang="fr">Arabie saoudite</country><wicri:regionArea>Pathology Department, King Fahad Medical City</wicri:regionArea><wicri:noRegion>King Fahad Medical City</wicri:noRegion></affiliation></author><author><name sortKey="Amin Ur Rahman, Muhammad" sort="Amin Ur Rahman, Muhammad" uniqKey="Amin Ur Rahman M" first="Muhammad" last="Amin Ur Rahman">Muhammad Amin Ur Rahman</name><affiliation wicri:level="1"><nlm:aff id="aff3-2054270419894821">Pediatric Department, King Saud University, Saudi Arabia</nlm:aff><country xml:lang="fr">Arabie saoudite</country><wicri:regionArea>Pediatric Department, King Saud University</wicri:regionArea><wicri:noRegion>King Saud University</wicri:noRegion></affiliation></author><author><name sortKey="Alotaibi, Wadha" sort="Alotaibi, Wadha" uniqKey="Alotaibi W" first="Wadha" last="Alotaibi">Wadha Alotaibi</name><affiliation wicri:level="1"><nlm:aff id="aff2-2054270419894821">Pathology Department, King Fahad Medical City, Saudi Arabia</nlm:aff><country xml:lang="fr">Arabie saoudite</country><wicri:regionArea>Pathology Department, King Fahad Medical City</wicri:regionArea><wicri:noRegion>King Fahad Medical City</wicri:noRegion></affiliation></author><author><name sortKey="Mobaireek, Khalid" sort="Mobaireek, Khalid" uniqKey="Mobaireek K" first="Khalid" last="Mobaireek">Khalid Mobaireek</name><affiliation wicri:level="1"><nlm:aff id="aff2-2054270419894821">Pathology Department, King Fahad Medical City, Saudi Arabia</nlm:aff><country xml:lang="fr">Arabie saoudite</country><wicri:regionArea>Pathology Department, King Fahad Medical City</wicri:regionArea><wicri:noRegion>King Fahad Medical City</wicri:noRegion></affiliation></author></analytic><series><title level="j">JRSM Open</title><idno type="eISSN">2054-2704</idno><imprint><date when="2020">2020</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>Surfactant protein C dysfunction is one of the causes of childhood
interstitial lung disease but has not previously been reported in Arabian
countries.</p></sec><sec><title>Case presentation</title><p>A six-year-old girl had presented at the age of eight months old with
bronchiolitis followed by a persistent cough, dyspnea and hypoxaemia. She
was found to have gastroesophageal reflux disease, but her symptoms did not
resolve despite her therapy being optimised. Further tests, including a
chest computed tomographic scan, lung biopsy and genetic testing, confirmed
a diagnosis of surfactant protein C dysfunction.</p></sec><sec><title>Conclusion</title><p>We report the first case in the Arab region of childhood interstitial lung
disease caused by surfactant protein C deficiency.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Kurland, G" uniqKey="Kurland G">G Kurland</name></author><author><name sortKey="Deterding, Rr" uniqKey="Deterding R">RR Deterding</name></author><author><name sortKey="Hagood, Js" uniqKey="Hagood J">JS Hagood</name></author><author><name sortKey="Young, Lr" uniqKey="Young L">LR Young</name></author><author><name sortKey="Brody, As" uniqKey="Brody A">AS Brody</name></author><author><name sortKey="Castile, Rg" uniqKey="Castile R">RG Castile</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mukhtar, Gm" uniqKey="Mukhtar G">GM Mukhtar</name></author><author><name sortKey="Al Otaibi, Wh" uniqKey="Al Otaibi W">WH Al Otaibi</name></author><author><name sortKey="Al Mobaireek, Kf" uniqKey="Al Mobaireek K">KF Al-Mobaireek</name></author><author><name sortKey="Al Saleh, S" uniqKey="Al Saleh S">S Al-Saleh</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nogee, Lm" uniqKey="Nogee L">LM Nogee</name></author><author><name sortKey="Dunbar, Ae" uniqKey="Dunbar A">AE Dunbar</name></author><author><name sortKey="Wert, Se" uniqKey="Wert S">SE Wert</name></author><author><name sortKey="Askin, F" uniqKey="Askin F">F Askin</name></author><author><name sortKey="Hamvas, A" uniqKey="Hamvas A">A Hamvas</name></author><author><name sortKey="Whitsett, Ja" uniqKey="Whitsett J">JA Whitsett</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mulugeta, S" uniqKey="Mulugeta S">S Mulugeta</name></author><author><name sortKey="Nguyen, V" uniqKey="Nguyen V">V Nguyen</name></author><author><name sortKey="Russo, Sj" uniqKey="Russo S">SJ Russo</name></author><author><name sortKey="Muniswamy, M" uniqKey="Muniswamy M">M Muniswamy</name></author><author><name sortKey="Beers, Mf" uniqKey="Beers M">MF Beers</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Salerno, T" uniqKey="Salerno T">T Salerno</name></author><author><name sortKey="Peca, D" uniqKey="Peca D">D Peca</name></author><author><name sortKey="Menchini, L" uniqKey="Menchini L">L Menchini</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Peca, D" uniqKey="Peca D">D Peca</name></author><author><name sortKey="Boldrini, R" uniqKey="Boldrini R">R Boldrini</name></author><author><name sortKey="Johannson, J" uniqKey="Johannson J">J Johannson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Thouvenin, G" uniqKey="Thouvenin G">G Thouvenin</name></author><author><name sortKey="Abou Taam, R" uniqKey="Abou Taam R">R Abou Taam</name></author><author><name sortKey="Flamein, F" uniqKey="Flamein F">F Flamein</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mechri, M" uniqKey="Mechri M">M Mechri</name></author><author><name sortKey="Epaud, R" uniqKey="Epaud R">R Epaud</name></author><author><name sortKey="Emond, S" uniqKey="Emond S">S Emond</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Abou Taam, R" uniqKey="Abou Taam R">R Abou Taam</name></author><author><name sortKey="Jaubert, F" uniqKey="Jaubert F">F Jaubert</name></author><author><name sortKey="Emond, S" uniqKey="Emond S">S Emond</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dishop, Mk" uniqKey="Dishop M">MK Dishop</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Arabie saoudite</li></country></list><tree><country name="Arabie saoudite"><noRegion><name sortKey="Alzaid, Mohammed A" sort="Alzaid, Mohammed A" uniqKey="Alzaid M" first="Mohammed A" last="Alzaid">Mohammed A. Alzaid</name></noRegion><name sortKey="Alotaibi, Wadha" sort="Alotaibi, Wadha" uniqKey="Alotaibi W" first="Wadha" last="Alotaibi">Wadha Alotaibi</name><name sortKey="Amin Ur Rahman, Muhammad" sort="Amin Ur Rahman, Muhammad" uniqKey="Amin Ur Rahman M" first="Muhammad" last="Amin Ur Rahman">Muhammad Amin Ur Rahman</name><name sortKey="Eltahir, Safa" sort="Eltahir, Safa" uniqKey="Eltahir S" first="Safa" last="Eltahir">Safa Eltahir</name><name sortKey="Mobaireek, Khalid" sort="Mobaireek, Khalid" uniqKey="Mobaireek K" first="Khalid" last="Mobaireek">Khalid Mobaireek</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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