Clinical Features Of Familial Pulmonary Fibrosis And Literature Review (A Case Of Fpf With Her Family Report)

Objective:To analyse the Clinical features of familial pulmonary fibrosis and therefore improve the recognition of the disease.Methods:This paper would retrospectively analyze the clinical materials of one patient with familial pulmonary fibrosis, which was proven histopathologically in the First Affiliated Hospital of Guangxi Medical University.Then the clinical manifestations, imaging data, pulmonary function tests, pathology, family history and genetic testing information will be analyzed combining with the discussion of domestic and international literatures.Results:(1) The female patient was48-year-old,whose main symptoms were exertional dyspnea repeatedly and bibasilar end-inspiratory Velcro, HRCT revealed patchy, reticular opacities and diffuse honeycombing. The diffusing capacity carbon monoxide was reduced slightly. Without system damage. There were heterozygous mutations in exon9of hTERT, in exon5of SFTPA1and in exon3of SFTPA2, and homozygous mutations in exon2of SFTPB in the proband. The patient’s mother and brother were diagnosed with idiopathic pulmonary fibrosis.(2) The results of literature review:23FPF families had been reported from1950to March,2014, with a total of68patients, including the male26cases, female42cases, the average age of onset was36.00years.27cases were included as to the survival time after onset, the average survival time of after the onset of was25.00months. A total of24patients about whether the presence of smoking or not was in statistics, in which there were11patients who smoked, while there were13patients who didn’t smoke. The most common clinical manifestations were progressive exertional dyspnea, cough, clubbing and pulmonary Velcro. HRCT and histopathology were UIP, lung function tests revealed were strictive pattem and/or impaired diffusion capacity; There were31cases were included, among which there were23cases of death; Among them prednisone was used in the treatment was27cases, The number of death was19.There were a total of17cases included about the average survival time of dead patients, and it was24.35±20.46months.There were4cases without the treatment of prednisone and the patients all died.Conclusions:1. FPF is a chronic,insidious and familial disease,with an earlier age of onset.2. The main symptoms were exertional dyspnea and bibasilar end-inspiratory Velcro,someone maybe asymptomatic.3.The typical manifestations radiological and histopathology was UIP; Pulmonary function tests revealed were strictive pattem with impaired diffusion capacity.4. There were mutations in hTERT, SFTPB and SFTPA in the proband.5. Prednisone was effective for some FPF.