Recurrent diffuse lung disease due to surfactant protein C deficiency.
Identifieur interne : 000C18 ( Main/Exploration ); précédent : 000C17; suivant : 000C19Recurrent diffuse lung disease due to surfactant protein C deficiency.
Auteurs : Brigitte Kazzi [États-Unis] ; David Lederer [États-Unis] ; Emilio Arteaga-Solis [États-Unis] ; Anjali Saqi [États-Unis] ; Wendy K. Chung [États-Unis]Source :
- Respiratory medicine case reports [ 2213-0071 ] ; 2018.
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.
DOI: 10.1016/j.rmcr.2018.07.003
PubMed: 30094155
Affiliations:
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Le document en format XML
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<front><div type="abstract" xml:lang="en">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 <i>de novo SFTPC</i>
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.</div>
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