Pediatric Case Report on an Interstitial Lung Disease with a Novel Mutation of SFTPC Successfully Treated with Lung Transplantation.

Pediatric Case Report on an Interstitial Lung Disease with a Novel Mutation of SFTPC Successfully Treated with Lung Transplantation. J Korean Med Sci. 2018 May 28;33(22):e159 Authors: Park JS, Choi YJ, Kim YT, Park S, Chae JH, Park JD, Cho YJ, Kim WS, Seong MW, Park SH, Kwon D, Chung DH, Suh DI Abstract Mutations of the surfactant protein (SP)-C gene (SFTPC) have been associated with neonatal respiratory distress syndrome (RDS) and childhood interstitial lung disease (ILD). If accurate diagnosis and proper management are delayed, irreversible respiratory failure demanding lung transplantation may ensue. A girl was born at term but was intubated and given exogenous surfactant due to RDS. Cough and tachypnea persisted, and symptoms rapidly progressed at 16 months of age despite treatment with antibiotics, oral prednisolone, methylprednisolone pulse therapy, and intravenous immunoglobulin. At 20 months, she visited our hospital for a second opinion. A computed tomography scan showed a diffuse mosaic pattern with ground-glass opacity and subpleural cysts compatible with ILD. A video-assisted thoracoscopic lung biopsy revealed ILD with eosinophilic proteinaceous material and macrophages in the alveolar space. Bilateral lung transplant from a 30-month-old child was done, and she was discharged in room air without acute complications. Genetic analysis revealed a novel c.203T>A, p.Val68Asp mutation of SP-C, based on the same exon as a kno...
Source: J Korean Med Sci - Category: General Medicine Authors: Tags: J Korean Med Sci Source Type: research