{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:27:50Z","timestamp":1790803670278,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,12,21]],"date-time":"2019-12-21T00:00:00Z","timestamp":1576886400000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Investigation"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Importance<\/jats:title><jats:p>Surfactant protein C (<jats:styled-content style=\"fixed-case\">SP<\/jats:styled-content>\u2010C) dysfunction is a rare disease associated with interstitial lung disease. Early therapies may improve outcomes but the diagnosis is often delayed owing to variability of manifestations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To investigate the manifestations and outcomes of SP\u2010C dysfunction.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We retrospectively analyzed the records of five pediatric patients who were diagnosed with <jats:styled-content style=\"fixed-case\">SP<\/jats:styled-content>\u2010C dysfunction between February 2014 and April 2017 at Beijing Children's Hospital.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The five patients included two boys and three girls with a median age at diagnosis of 1.3 years. All patients presented with interstitial lung disease and had a heterozygous <jats:italic><jats:styled-content style=\"fixed-case\">SFTPC<\/jats:styled-content><\/jats:italic> mutation, including an I73T mutation in three patients, a V39L mutation in one patient, and a Y104H mutation in one patient. In addition to common respiratory manifestations, hemoptysis and anemia were observed in one patient with the I73T mutation. Elevated levels of autoantibodies and a large number of hemosiderin\u2010laden macrophages in bronchoalveolar lavage fluid were found in two patients with the I73T mutation, suggesting the presence of diffuse alveolar hemorrage and autoimmunity. Chest high\u2010resolution computed tomography features included ground\u2010glass opacities, reticular opacities, cysts, and pleural thickening. Transbronchial lung biopsy was performed in one patient with the I73T mutation, which revealed the presence of some hemosiderin\u2010laden macrophages in alveolar spaces. All patients received treatment with corticosteroids; two received combined treatment with hydroxychloroquine. During follow\u2010up, the two patients who received hydroxychloroquine showed improved symptoms; of the remaining three patients, two died after their families refused further treatment, while the final patient was lost to follow\u2010up.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>This is the first report to describe a new phenotype of diffuse alveolar hemorrhage with autoimmunity in patients with I73T <jats:italic><jats:styled-content style=\"fixed-case\">SFTPC<\/jats:styled-content><\/jats:italic> mutation. Treatment with hydroxychloroquine should be considered for patients with <jats:styled-content style=\"fixed-case\">SP<\/jats:styled-content>\u2010C dysfunction.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ped4.12162","type":"journal-article","created":{"date-parts":[[2019,12,21]],"date-time":"2019-12-21T18:38:26Z","timestamp":1576953506000},"page":"201-206","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Surfactant protein C dysfunction with new clinical insights for diffuse alveolar hemorrhage and autoimmunity"],"prefix":"10.1002","volume":"3","author":[{"given":"Xiaolei","family":"Tang","sequence":"first","affiliation":[{"name":"The Second Department of Respiratory Medicine Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuelin","family":"Shen","sequence":"additional","affiliation":[{"name":"The Second Department of Respiratory Medicine Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunju","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Pathology Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiming","family":"Yang","sequence":"additional","affiliation":[{"name":"The Second Department of Respiratory Medicine Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Liu","sequence":"additional","affiliation":[{"name":"The Second Department of Respiratory Medicine Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing 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