Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8820172 | Respiratory Medicine Case Reports | 2018 | 5 Pages |
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.397Aâ¯>â¯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.
Keywords
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Authors
Brigitte Kazzi, David Lederer, Emilio Arteaga-Solis, Anjali Saqi, Wendy K. Chung,