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dc.contributor.authorAcosta-Rivera, Victor
dc.contributor.authorMelendez-Montanez, Jesus M.
dc.contributor.authorDiaz-Sotomayor, Francisco
dc.contributor.authorDe Jesus-Rojas, Wilfredo
dc.date2022-08-11T08:10:01.000
dc.date.accessioned2022-08-23T16:52:34Z
dc.date.available2022-08-23T16:52:34Z
dc.date.issued2021-08-24
dc.date.submitted2022-02-28
dc.identifier.citation<p>Acosta-Rivera V, Melendez-Montañez JM, Diaz-Sotomayor F, De Jesús-Rojas W. Surfactant Protein C Deficiency in a Puerto Rican Adolescent With a Rare SFTPC Genetic Variant. Cureus. 2021 Aug 24;13(8):e17422. doi: 10.7759/cureus.17422. PMID: 34589332; PMCID: PMC8460488. <a href="https://doi.org/10.7759/cureus.17422">Link to article on publisher's site</a></p>
dc.identifier.issn2168-8184 (Linking)
dc.identifier.doi10.7759/cureus.17422
dc.identifier.pmid34589332
dc.identifier.urihttp://hdl.handle.net/20.500.14038/42078
dc.description.abstractSurfactant protein C (SP-C) is a hydrophobic lipoprotein necessary for lowering alveolar surface tension and lung defense mechanisms. Defects in its function due to genetic mutations in the SFTPC gene have been increasingly identified in patients presenting with childhood interstitial lung disease. SFTPC mutations are inherited in an autosomal dominant pattern with reduced penetration and variable expressivity, although de novo mutations have also been documented. In this article, we present the case of an oxygen-dependent 13-year-old male with interstitial lung disease and severe pulmonary hypertension. Genetic analysis and lung biopsy confirmed the diagnosis of SP-C deficiency with the rare heterozygous mutation IVS4+2. To our knowledge, this is the first documented case of SP-C deficiency in the Puerto Rican population and the second worldwide with the IVS4+2 genetic mutation.
dc.language.isoen_US
dc.relation<p><a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=34589332&dopt=Abstract">Link to Article in PubMed</a></p>
dc.relation.urlhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460488/
dc.rightsCopyright © 2021, Acosta-Rivera et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectchildhood interstitial lung disease
dc.subjectdigital clubbing
dc.subjectrare lung disease
dc.subjectsftpc mutations
dc.subjectsurfactant protein c
dc.subjectMedical Genetics
dc.subjectPediatrics
dc.subjectPulmonology
dc.subjectRespiratory Tract Diseases
dc.titleSurfactant Protein C Deficiency in a Puerto Rican Adolescent With a Rare SFTPC Genetic Variant
dc.typeJournal Article
dc.source.journaltitleCureus
dc.source.volume13
dc.source.issue8
dc.identifier.legacyfulltexthttps://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=5915&amp;context=oapubs&amp;unstamped=1
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/oapubs/4881
dc.identifier.contextkey28282623
refterms.dateFOA2022-08-23T16:52:34Z
html.description.abstract<p>Surfactant protein C (SP-C) is a hydrophobic lipoprotein necessary for lowering alveolar surface tension and lung defense mechanisms. Defects in its function due to genetic mutations in the SFTPC gene have been increasingly identified in patients presenting with childhood interstitial lung disease. SFTPC mutations are inherited in an autosomal dominant pattern with reduced penetration and variable expressivity, although de novo mutations have also been documented. In this article, we present the case of an oxygen-dependent 13-year-old male with interstitial lung disease and severe pulmonary hypertension. Genetic analysis and lung biopsy confirmed the diagnosis of SP-C deficiency with the rare heterozygous mutation IVS4+2. To our knowledge, this is the first documented case of SP-C deficiency in the Puerto Rican population and the second worldwide with the IVS4+2 genetic mutation.</p>
dc.identifier.submissionpathoapubs/4881
dc.contributor.departmentDepartment of Medicine
dc.source.pagese17422


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Copyright © 2021, Acosta-Rivera et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Except where otherwise noted, this item's license is described as Copyright © 2021, Acosta-Rivera et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.