Skip to main content
Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

Fig. 4

(a) A 64-year-old non-smoking man with familial pulmonary fibrosis and no extra-pulmonary manifestation. (b, c) The CT scan pattern was considered usual interstitial pneumonia (UIP). Genetic analysis revealed a heterogeneous TERT mutation (c.3216G > A, p.Trp1072*), classified as pathogenic, in both siblings. Genetic counselling was proposed for the relatives. Antifibrosing therapy was offered along with lung transplantation screening for the proband

Back to article page