An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13.

ABSTRACT:

Background

Pulmonary fibrosis is one of the leading indications for lung transplantation. The disease, which is of unknown aetiology, can be progressive, resulting in distortion of the extracellular matrix (ECM), inflammation, fibrosis and eventual death.

Methods

13 patients born to consanguineous parents from two unrelated families presenting with interstitial lung disease were clinically investigated. Nine patients developed respiratory failure and subsequently died. Molecular genetic investigations were performed on patients' whole blood or archived tissues, and cell biological investigations were performed on patient-derived fibroblasts.

Results

The combination of a unique pattern of early-onset lung fibrosis (at 12-15 years old) with distinctive radiological find

SUBMITTER: Al-Mutairy EA 

PROVIDER: S-EPMC6637284 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature