Publication details

Familiární plicní fibróza - doporučení pro diagnostiku a léčbu

Title in English Familial pulmonary fibrosis - guidelines for diagnosis and treatment
Authors

ŠTERCLOVÁ Martina DOUBEK Michael DOUBKOVÁ Martina

Year of publication 2020
Type Article in Periodical
Magazine / Source Vnitřní lékařství
MU Faculty or unit

Faculty of Medicine

Citation
Web https://www.casopisvnitrnilekarstvi.cz/artkey/vnl-202006-0006_familial-pulmonary-fibrosis-guidelines-for-diagnostics-and-treatment.php
Keywords familial pulmonary fibrosis; genetics; telomer; surfaktant; treatment
Description 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. Manifestation 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.

You are running an old browser version. We recommend updating your browser to its latest version.

More info