Familial pulmonary fibrosis – guidelines for diagnostics and treatment

Česká verzia

Authors: Martina Šterclová ^1,2; Michael Doubek ^3,4; Martina Doubková ⁵
Authors place of work: Pneumologická klinika 2. LF a FN Motol, Praha ¹; Interní oddělení Nemocnice na Homolce, Praha ²; Interní hematologická a onkologická klinika FN Brno a LF Brno 4Středoevropský technologický institut, Masarykova univerzita, Brno ³; Klinika nemocí plicních a tuberkulózy FN Brno a LF Masarykovy univerzity Brno ⁵
Published in the journal: Vnitř Lék 2020; 66(6): 365-370
Category:

Summary

Familial pulmonary fibrosis (FPF) is defined as interstitial lung involvement in at least two members of the same biological family. Pathogenesis of FPF involves background of genetic risk factors further modified by environmental exposures and aging. Manifesta‑ tion of FPF mirrors manifestation of interstitial lung diseases generally. Patients may present also with involvement of other organs, as seen usually in those affected by complex syndromes or telomeropaties. Described mutations concern telomeres homeostasis genes (TERT, TERC, RTEL1, PARN, DKC1, TINF, NAF1), surfactant genes (SFTPC, ABCA3, NFKX2‑1) or genes associated with complex syndromes (COPA, TMEM173, HPS‑1‑8, NF1, FAM111B, NDUFAF6, GATA 2). Genetic tests are indicated by specialist in clinical genetics, optimaly after consultation with respiratory specialist involved in interstitial lung diseases. Treatment of FPF is currently unknown. In patients with multiorgan involvement growing number of organs may be affected in time and sometimes dysfunction of mostly severe affected organ may manifest before interstitial lung involvement.

Keywords:

Genetics – treatment – familial pulmonary fibrosis – telomer – surfaktant

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