摘要
Importance:Surfactant protein C(SP-C)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.Objective:To investigate the manifestations and outcomes of SP-C dysfunction.Methods:We retrospectively analyzed the records of five pediatric patients who were diagnosed with SP-C dysfunction between February 2014 and April 2017 at Beijing Children's Hospital.Results: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 SFTPC mutation,including an I73T mutation in three patients,a V39L mutation in one patient,and a Y 104H 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-laden 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-resolution computed tomography features included ground-glass 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-laden macrophages in alveolar spaces.All patients received treatment with corticosteroids;two received combined treatment with hydroxychloroquine.During follow-up,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-up.Interpretation:This is the first report to describe a new phenotype of diffuse alveolar hemorrhage with autoimmunity in patients with I73T SFTPC mutation.Treatment with hydroxychloroquine should be considered for patients with SP-C dysfunction.
