Clinical features and genetic characterization of familial pulmonary fibrosis in a Chinese family

Familial pulmonary fibrosis (FPF) is defined as idiopathic pulmonary fibrosis occurring in at least two members of a family. Studies showed that genetic factors and environmental common play an important role in the pathogenesis of FPF. We present the clinical data of a Chinese family with FPF. Based on the clinical and radiological features, the proband was diagnosed with idiopathic pulmonary fibrosis at the age of 44 years. Her family history showed that two deceased relatives died of idiopathic pulmonary fibrosis, and four members may die from this disease. Furthermore, the genomic DNA of the proband was sequenced and showed mutations in telomerase reverse transcriptase gene, surfactant pulmonary-associated protein B, and surfactant pulmonary-associated protein A.