A Nonsmoker Man in His 40s With a Diagnosis of Genetic-Related Idiopathic Pulmonary Fibrosis (Surfactant-Protein C Gene Mutation)

摘要

A nonsmoker man in his 40s underwent bilateral lung transplantation with a referral diagnosis of genetic-related idiopathic pulmonary fibrosis (IPF). The patient had no medical history in?childhood and early adulthood, nor was there a family history of IPF. His nonsmoker father?presented with lung cancer at 59 years of age. The patient was a professional brass instrument player; he had started playing at 9 years of age, and he was recently playing 3 to 4?h per day. He had a 7-year clinical history of chronic cough and shortness of breath. Bilateral fine crackles were present at clinical examination. There was no digital clubbing. Data had been collected since 2015: no clinical or immunologic signs of connective tissue disease were evident, including autoantibodies for myositis or anti-synthetase syndrome. Chest radiograph showed diffuse interstitial lung disease. Results of pulmonary function tests yielded a restrictive pattern with decreased FVC and decreased total lung capacity (69%?and 47% of?predicted, respectively). The FEVsub1/sub/FVC ratio was 86%, and carbon monoxide transfer coefficient was 36%?of predicted. BAL cellular analysis consisted of macrophages (66%), lymphocytes (19%; CD4sup+/sup/CD8sup+/sup ratio, 0.16), neutrophils (10%), and eosinophils (5%).