<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Diffuse or interstitial lung disease (DLD/ILD) comprises a diverse group of disorders that involve the pulmonary parenchyma. Its aetiology varies (which makes the diagnostic process difficult), but congenital diseases, including malformation syndromes or developmental disorders, constitute one of the causative factors. They are rare conditions, and thus their frequency is not high. However, considering the progress and increasing availability of genetic testing, detection of these rare syndromes may increase. The aim of this work is, therefore, to present the symptomatology of selected congenital syndromes with ILD, taking into account the genetic background.</p>
</abstract>

Diffuse or interstitial lung disease (DLD/ILD) comprises a diverse group of disorders that involve the pulmonary parenchyma. Its aetiology varies (which makes the diagnostic process difficult), but congenital diseases, including malformation syndromes or developmental disorders, constitute one of the causative factors. They are rare conditions, and thus their frequency is not high. However, considering the progress and increasing availability of genetic testing, detection of these rare syndromes may increase. The aim of this work is, therefore, to present the symptomatology of selected congenital syndromes with ILD, taking into account the genetic background.

Interstitial Lung Disease in Rare Congenital Syndromes

Department of Genetics and Clinical Immunology

Journal of Mother and Child

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

{"article-title":"Interstitial Lung Disease in Rare Congenital Syndromes"}

Diffuse or interstitial lung disease (DLD/ILD) comprises a diverse group of disorders that involve the pulmonary parenchyma. Its aetiology varies (which makes...

Interstitial Lung Disease in Rare Congenital Syndromes

Article Category: Review Paper

Pubblicato online: 29 lug 2020

Pagine: 47 - 52

DOI: https://doi.org/10.34763/jmotherandchild.2020241.1931.000004

Parole chiave
interstitial lung disease, congenital malformation syndrome, genetics

© 2020 Aleksandra Jezela-Stanek, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Interstitial Lung Disease in Rare Congenital Syndromes

Article Category: Review Paper

Pubblicato online: 29 lug 2020

Pagine: 47 - 52

DOI: https://doi.org/10.34763/jmotherandchild.2020241.1931.000004

Parole chiaveinterstitial lung disease, congenital malformation syndrome, genetics

© 2020 Aleksandra Jezela-Stanek, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Parole chiave
interstitial lung disease, congenital malformation syndrome, genetics