The necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F25%3A00082622" target="_blank" >RIV/65269705:_____/25:00082622 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/25:00142546 RIV/00216208:11110/25:10500713 RIV/00216208:11130/25:10500713 RIV/00064203:_____/25:10500713 RIV/00064190:_____/25:10001408
Result on the web
<a href="https://publications.ersnet.org/content/breathe/21/3/240255" target="_blank" >https://publications.ersnet.org/content/breathe/21/3/240255</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1183/20734735.0255-2024" target="_blank" >10.1183/20734735.0255-2024</a>
Alternative languages
Result language
angličtina
Original language name
The necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults
Original language description
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-Dubé 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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30203 - Respiratory systems
Result continuities
Project
<a href="/en/project/NW24-06-00050" target="_blank" >NW24-06-00050: Telomere length and short telomeres syndrome in Czech interstitial lung diseases patients</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Breathe
ISSN
1810-6838
e-ISSN
2073-4735
Volume of the periodical
21
Issue of the periodical within the volume
3
Country of publishing house
GB - UNITED KINGDOM
Number of pages
10
Pages from-to
240255
UT code for WoS article
001565637700005
EID of the result in the Scopus database
2-s2.0-105016323781