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

• Published in: Journal of Korean medical science Vol. 33; no. 22; p. e159
• Main Authors: Park, Ji Soo, Choi, Yun Jung, Kim, Young Tae, Park, Samina, Chae, Jong-Hee, Park, June Dong, Cho, Yeon Jin, Kim, Woo-Sun, Seong, Moon-Woo, Park, Sung-Hye, Kwon, Dohee, Chung, Doo Hyun, Suh, Dong In
• Format: Journal Article
• Language: English
• Published: Korea (South) The Korean Academy of Medical Sciences 28.05.2018; 대한의학회
• Subjects: Case Report; 의학일반; Interstitial Lung Disease; Lung Transplantation; Surfactant Protein C; SFTPC
• ISSN: 1011-8934; 1598-6357
• DOI: 10.3346/jkms.2018.33.e159

Mutations of the surfactant protein (SP)-C gene ( ) 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 known pathogenic mutation, p.Glu66Lys.