Heterozygous TERT gene mutation associated with familial idiopathic pulmonary fibrosis

• Type: Article in International Scientific Journal
• Date: 2019

Authors

Sous, SR (Author) Other; Mota, PG (Author) Other; Melo, N (Author) Other; Bastos, HN (Author) FMUP; Padrao, E (Author) Other; Pereira, JM (Author) Other; Cunha, R (Author) Other; Moura, CS (Author) Other; Guimaraes, S (Author) Other; Morals, A (Author) Other

Journal

Title: Respiratory Medicine Case Reports

Vol. 26

Pages: 118-122

ISSN: 2213-0071

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 6 Citations

Other information

Authenticus ID: P-00Q-BTP

DOI: 10.1016/j.rmcr.2018.12.005

Abstract (EN): Idiopathic pulmonary fibrosis (IPF) is a chronic interstitial lung disease of unknown cause that occurs sporadically, but it can also occur in families and so named as Familial Pulmonary Fibrosis (FPF). Some forms of FPF overlaps IPF features, namely the radiological and histological pattern of usual interstitial pneumonia (UIP). Genetic and environmental factors commonly play an important role in the pathogenesis of FPF and the most commonly identified mutations involve the telomerase complex. Here, we report a rare case of FPF in a male at the age of 44, in whom genetic testing showed heterozygous variants for the telomerase reverse transcriptase gene (TERT). Our report highlights the importance of compiling a thorough family history in younger patients identified with UIP serving as a resource for identifying the current and future genetic links to disease. Families with UIP hold a great promise in defining UIP pathogenesis, potentially suggesting targets for the development of future therapies.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5