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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216224:14110/25:00142546 RIV/00216208:11110/25:10500713 RIV/00216208:11130/25:10500713 RIV/00064203:_____/25:10500713 RIV/00064190:_____/25:10001408

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30203 - Respiratory systems

Projekt

<a href="/cs/project/NW24-06-00050" target="_blank" >NW24-06-00050: Délka telomér a syndrom krátkých telomér u českých pacientů s intersticiálními plicními procesy</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2025

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Breathe

ISSN

1810-6838

e-ISSN

2073-4735

Svazek periodika

21

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

10

Strana od-do

240255

Kód UT WoS článku

001565637700005

EID výsledku v databázi Scopus

2-s2.0-105016323781