Surfactant protein C dysfunction with new clinical insights for diffuse alveolar hemorrhage and autoimmunity.

ABSTRACT:

Importance

Surfactant protein C (SP-C) dysfunction is a rare disease associated with interstitial lung disease. Early therapies may improve outcomes but the diagnosis is often delayed owing to variability of manifestations.

Objective

To investigate the manifestations and outcomes of SP-C dysfunction.

Methods

We retrospectively analyzed the records of five pediatric patients who were diagnosed with SP-C dysfunction between February 2014 and April 2017 at Beijing Children's Hospital.

Results

The five patients included two boys and three girls with a median age at diagnosis of 1.3 years. All patients presented with interstitial lung disease and had a heterozygous SFTPC mutation, including an I73T mutation in three patients, a V39L mutation in one patient, a

SUBMITTER: Tang X 

PROVIDER: S-EPMC7331417 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature