Recurrent diffuse lung disease due to surfactant protein C deficiency. (2018)

• Record Type: Journal Article
• Authors: Kazzi, Brigitte; Lederer, David; Arteaga-Solis, Emilio; Saqi, Anjali; Chung, Wendy K.
• Is Part Of: Respiratory medicine case reports. Volume 25(2018)
• Page Start: 91
• Page End: 95
• Publication Date: 2018
• Subjects: Childhood diffuse lung disease -- Hydroxychloroquine -- Surfactant protein C deficiency; Respiratory organs -- Diseases -- Periodicals; Chest -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Respiratory System -- Periodicals; Chest -- Diseases; Respiratory organs -- Diseases; Electronic journals; Periodicals; 616.2
• DOI: 10.1016/j.rmcr.2018.07.003
• Languages: English
• ISSNs: 2213-0071

Abstract

Abstract: Surfactant protein C (SP-C) deficiency causes diffuse lung disease with variable prognosis and severity that usually presents in infancy. We present the case of a patient with diffuse lung disease who was successfully treated with hydroxychloroquine and steroids in infancy, who presented again as a young adult with respiratory symptoms. Exome sequencing identified a novel de novo SFTPC mutation (c.397A > C p.S133R). Mutated SP-C accumulates and leads to injury of alveolar type II cells, which normally replenish alveolar type I cells after injury. This may explain the symptom recurrence after lung injury in young adulthood. Although hydroxychloroquine has been hypothesized to interfere with mutated SP-C accumulation, data on long term outcome remains limited.