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


Journal

Chest
ISSN: 1931-3543
Titre abrégé: Chest
Pays: United States
ID NLM: 0231335

Informations de publication

Date de publication:
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-e96

Informations de copyright

Copyright © 2019 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

Auteurs

Antonin Fattori (A)

Department of Pathology, University of Strasbourg, Strasbourg, France.

Mickael Ohana (M)

Department of Radiology, University of Strasbourg, Strasbourg, France.

Sandrine Hirschi (S)

Department of Pneumology, University of Strasbourg, Strasbourg, France.

Romain Kessler (R)

Department of Pneumology, University of Strasbourg, Strasbourg, France.

Nicola Santelmo (N)

Department of Thoracic Surgery, University of Strasbourg, Strasbourg, France.

Nadia Nathan (N)

Department of Pediatric Pulmonology, Inserm UMR_S933, Armand-Trousseau Hospital, Paris, France.

Marie-Pierre Chenard (MP)

Department of Pathology, University of Strasbourg, Strasbourg, France.

Stephane Raymond (S)

Department of Pneumology, Robert Schuman Hospital, Metz, France.

Marie Legendre (M)

Sorbonne Université, Inserm and AP-HP, Inserm UMR_S933 and Genetics Department, Armand-Trousseau Hospital, Paris, France.

Fiorella Calabrese (F)

Department of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padova, Padova, Italy. Electronic address: fiorella.calabrese@unipd.it.

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