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Recurrent diffuse lung disease due to surfactant protein C deficiency.

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.

SUBMITTER: Kazzi B

PROVIDER: S-EPMC6080219 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Recurrent diffuse lung disease due to surfactant protein C deficiency.

Kazzi Brigitte B Lederer David D Arteaga-Solis Emilio E Saqi Anjali A Chung Wendy K WK

Respiratory medicine case reports 20180719

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, w ...[more]

PMID: 30094155

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