Clinical and genetic study on familial idiopathic pulmonary fibrosis in a Chinese family

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To identify the manifestations and pathogenesis of idiopathic pulmonary fibrosis (IPF) after studying the clinical features of familial idiopathic pulmonary fibrosis (FIPF) and detecting relevant genes. Seven persons with FIPF from one family of Han nationality in northern China, which had FIPF patients in three consecutive generations, were included in this study. The incidence age of the 7 subjects (4 males and 3 females) ranged from 30 to 57 years. The propositus was II-4, while the first person attacked by FIPF was I-1. Five patients (2 males, 3 females) in the second generation and one case in the third generation were found at the time of this study. The genetic characteristics of FIPF in this study were complied with the pattern of autosomal dominant inheritance. Imaging examinations and pulmonary function tests were conducted to confirm the diagnosis of pulmonary fibrosis. Meanwhile, personal information and clinical data such as imaging examinations and pathological tests were acquired; clinical features and manifestations were analyzed and compared; and pathological tests and gene detection were performed. The average survival time was 3 years, and poor response to glucocorticoid treatment was observed. Three patients had detailed clinical information, whose interstitial pneumonia related immunologic tests were negative. Concerning pulmonary function, three patients had significant decrease of diffusion function and obvious restrictive ventilatory disorder, with DLCO value as 50%, 23% and 46%, respectively. Among the 3 patients with complete imaging data, 1 was considered as UIP, while 2 as NSIP. The 3 subjects who had different imaging findings all responded poorly to glucocorticoid treatment, and two of them died. Genetic test for TERT, TERC and SFTPC in peripheral blood and autopsy were performed for II-4 but all were negative. The average death age of family members with FIPF was 50.2 years. The patients presented various imaging features and pathological findings. Glucocorticoid treatment may be ineffective, even for persons diagnosed as NSIP by lung biopsy.