The necessity of geneticist and pulmonologist collaboration in
the treatment of monogenic interstitial lung diseases in adults

J 2025

The necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults

STERCLOVA, Martina; Martina DOUBKOVÁ; Michael DOUBEK a Milan MACEK

Základní údaje

Originální název

The necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults

Autoři

STERCLOVA, Martina; Martina DOUBKOVÁ; Michael DOUBEK a Milan MACEK

Vydání

BREATHE, SHEFFIELD, EUROPEAN RESPIRATORY SOC JOURNALS LTD, 2025, 1810-6838

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30203 Respiratory systems

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.400 v roce 2024

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/25:00142564

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

Monogenic interstitial lung diseases; genetic testing; genotype–phenotype correlation; multidisciplinary management; genetic counselling

Štítky

14110212, 14110215, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 12. 11. 2025 13:07, Mgr. Tereza Miškechová

Anotace

V originále

Interstitial lung diseases (ILDs) are a very heterogeneous group of diseases. Although the aetiology of many of these diseases is not fully understood, an association with specific pathogenic gene variants has been demonstrated for some of the diseases. The aim of this review is to provide genotype-phenotype correlation information on monogenic ILDs to provide guidance to pulmonologists on when to refer ILD patients for genetic testing. Most patients with monogenic ILDs suffer from multiorgan involvement and should be managed by a multidisciplinary team of specialists. Different syndromes are associated with a greater risk of (nonrespiratory) malignancies (Birt-Hogg-Dub & eacute; syndrome and telomeropathies). Isolated lung involvement has been described in surfactant-related gene variant carriers (SFTPA 1 and 2, SFTPC) and patients with pulmonary alveolar microlithiasis. The clinical suspicion of monogenic ILDs should be raised in young patients diagnosed with ILD, patients with a known family history of ILD or suspected telomeropathies, and patients suspected of having syndromes associated with ILD. Patients with suspected monogenic ILDs should be aware of the possibility of genetic counselling both to obtain a diagnosis and to select further follow-up by pulmonologists and other involved specialists. Raising awareness of monogenic ILDs and creating counselling platforms is necessary both to diagnose and manage patients with these rare diseases.

Citovat

STERCLOVA, Martina; Martina DOUBKOVÁ; Michael DOUBEK a Milan MACEK. The necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults. BREATHE. SHEFFIELD: EUROPEAN RESPIRATORY SOC JOURNALS LTD, 2025, roč. 21, č. 3, s. 1-10. ISSN 1810-6838. Dostupné z: https://doi.org/10.1183/20734735.0255-2024.

@article{2532584,
   author = {Sterclova, Martina and Doubková, Martina and Doubek, Michael and Macek, Milan},
   article_location = {SHEFFIELD},
   article_number = {3},
   doi = {https://doi.org/10.1183/20734735.0255-2024},
   keywords = {Monogenic interstitial lung diseases; genetic testing; genotype–phenotype correlation; multidisciplinary management; genetic counselling},
   language = {eng},
   issn = {1810-6838},
   journal = {BREATHE},
   title = {The necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults},
   url = {https://publications.ersnet.org/content/breathe/21/3/240255},
   volume = {21},
   year = {2025}
}

TY  - JOUR
ID  - 2532584
AU  - Sterclova, Martina - Doubková, Martina - Doubek, Michael - Macek, Milan
PY  - 2025
TI  - The necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults
JF  - BREATHE
VL  - 21
IS  - 3
SP  - 1-10
EP  - 1-10
PB  - EUROPEAN RESPIRATORY SOC JOURNALS LTD
SN  - 18106838
KW  - Monogenic interstitial lung diseases
KW  - genetic testing
KW  - genotype–phenotype correlation
KW  - multidisciplinary management
KW  - genetic counselling
UR  - https://publications.ersnet.org/content/breathe/21/3/240255
N2  - Interstitial lung diseases (ILDs) are a very heterogeneous group of diseases. Although the aetiology of many of these diseases is not fully understood, an association with specific pathogenic gene variants has been demonstrated for some of the diseases. The aim of this review is to provide genotype-phenotype correlation information on monogenic ILDs to provide guidance to pulmonologists on when to refer ILD patients for genetic testing. Most patients with monogenic ILDs suffer from multiorgan involvement and should be managed by a multidisciplinary team of specialists. Different syndromes are associated with a greater risk of (nonrespiratory) malignancies (Birt-Hogg-Dub & eacute; syndrome and telomeropathies). Isolated lung involvement has been described in surfactant-related gene variant carriers (SFTPA 1 and 2, SFTPC) and patients with pulmonary alveolar microlithiasis. The clinical suspicion of monogenic ILDs should be raised in young patients diagnosed with ILD, patients with a known family history of ILD or suspected telomeropathies, and patients suspected of having syndromes associated with ILD. Patients with suspected monogenic ILDs should be aware of the possibility of genetic counselling both to obtain a diagnosis and to select further follow-up by pulmonologists and other involved specialists. Raising awareness of monogenic ILDs and creating counselling platforms is necessary both to diagnose and manage patients with these rare diseases.
ER  -

STERCLOVA, Martina; Martina DOUBKOVÁ; Michael DOUBEK a Milan MACEK. The necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults. \textit{BREATHE}. SHEFFIELD: EUROPEAN RESPIRATORY SOC JOURNALS LTD, 2025, roč.~21, č.~3, s.~1-10. ISSN~1810-6838. Dostupné z: https://doi.org/10.1183/20734735.0255-2024.

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