Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF.

ABSTRACT:

Background

While idiopathic pulmonary fibrosis (IPF) is one of the most common forms of interstitial lung disease, the aetiology of IPF is poorly understood. Familial cases of pulmonary fibrosis suggest a genetic basis for some forms of the disease. Recent reports have linked genetic mutations in surfactant protein C (SFTPC) with familial forms of pulmonary fibrosis, including one large family in which a number of family members were diagnosed with usual interstitial pneumonitis (UIP), the pathological correlate to IPF. Because of this finding in familial cases of pulmonary fibrosis, we searched for SFTPC mutations in a cohort of sporadic cases of UIP and non-specific interstitial pneumonitis (NSIP).

Methods

The gene for SFTPC was sequenced in 89 patients diagnosed with UIP,

SUBMITTER: Lawson WE 

PROVIDER: S-EPMC1746860 | biostudies-literature | 2004 Nov

REPOSITORIES: biostudies-literature