A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.

ABSTRACT:

Background

Interstitial lung disease occurring in children is a condition characterized by high frequency of cases due to genetic aberrations of pulmonary surfactant homeostasis, that are also believed to be responsible of a fraction of familial pulmonary fibrosis. To our knowledge, ABCA3 gene was not previously reported as causative agent of fibrosis affecting both children and adults in the same kindred.

Methods

We investigated a large kindred in which two members, a girl whose interstitial lung disease was first recognized at age of 13, and an adult, showed a diffuse pulmonary fibrosis with marked differences in terms of morphology and imaging. An additional, asymptomatic family member was detected by genetic analysis. Surfactant abnormalities were investigated at biochem

SUBMITTER: Campo I 

PROVIDER: S-EPMC4021316 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature