A Nonsmoker Man in His 40s With a Diagnosis of Genetic-Related Idiopathic Pulmonary Fibrosis (Surfactant-Protein C Gene Mutation).
Adult
Alveolitis, Extrinsic Allergic
/ diagnosis
Biopsy
DNA
/ genetics
DNA Mutational Analysis
Diagnosis, Differential
Humans
Idiopathic Pulmonary Fibrosis
/ complications
Lung
/ diagnostic imaging
Male
Mutation
Non-Smokers
Pulmonary Surfactant-Associated Protein C
/ genetics
Radiography, Thoracic
Respiratory Function Tests
Tomography, X-Ray Computed
Journal
Chest
ISSN: 1931-3543
Titre abrégé: Chest
Pays: United States
ID NLM: 0231335
Informations de publication
Date de publication:
04 2019
04 2019
Historique:
received:
27
08
2018
revised:
05
12
2018
accepted:
24
12
2018
entrez:
9
4
2019
pubmed:
9
4
2019
medline:
17
1
2020
Statut:
ppublish
Résumé
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 FEV
Identifiants
pubmed: 30955586
pii: S0012-3692(19)30007-8
doi: 10.1016/j.chest.2018.12.015
pii:
doi:
Substances chimiques
Pulmonary Surfactant-Associated Protein C
0
SFTPC protein, human
0
DNA
9007-49-2
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e91-e96Informations de copyright
Copyright © 2019 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.