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

<sec><h3>Introduction</h3>
<p>Interstitial lung disease (ILD) includes more than 200 progressive conditions classified based on common clinical, imaging or pathophysiological factors.</p>
</sec>
<sec><h3>Case presentation</h3>
<p>A 37-year-old male, former smoker, with unknown exposure and a family history of incompletely identified ILD, underwent functional and imaging investigations that raise the suspicion of an ILD with a pattern of non-specific interstitial pneumonia (NSIP). High-resolution computer tomography (HRCT) imaging detects the progression of lesions. The severely altered functional status does not allow a lung biopsy to be performed to elucidate the aetiology and establish the optimal therapeutic approach. Bronchoscopy with bronchial aspirate sampling and bronchoalveolar lavage does not suggest a specific ILD aetiology. A diagnosis of diffuse fibrosing and progressive ILD – an unclassifiable phenotype – was established, and after a multidisciplinary discussion, antifibrotic treatment was initiated. A genetic test was performed for a possible familial ILD with a genetic component. The test identified the presence of an autosomal recessive combined immunodeficiency due to NF-κB inducing kinase (NIK) deficiency associated with the MAP3K14 gene leading to the suspicion of a familial ILD.</p>
</sec>
<sec><h3>Discussion</h3>
<p>Genetic testing is essential for diagnosis of ILD, especially in young patients with a family history. Antifibrotics are the only available option for such cases; if immunosuppressive therapy should be initiated still remains a question. Is a lung transplant a realistic solution in such cases?</p>
</sec>
<sec><h3>Conclusions</h3>
<p>Familial aggregation and genetic changes should be sought for in diffuse ILD diagnosis.</p>
</sec>
</abstract>

Introduction
Interstitial lung disease (ILD) includes more than 200 progressive conditions classified based on common clinical, imaging or pathophysiological factors.

Case presentation
A 37-year-old male, former smoker, with unknown exposure and a family history of incompletely identified ILD, underwent functional and imaging investigations that raise the suspicion of an ILD with a pattern of non-specific interstitial pneumonia (NSIP). High-resolution computer tomography (HRCT) imaging detects the progression of lesions. The severely altered functional status does not allow a lung biopsy to be performed to elucidate the aetiology and establish the optimal therapeutic approach. Bronchoscopy with bronchial aspirate sampling and bronchoalveolar lavage does not suggest a specific ILD aetiology. A diagnosis of diffuse fibrosing and progressive ILD – an unclassifiable phenotype – was established, and after a multidisciplinary discussion, antifibrotic treatment was initiated. A genetic test was performed for a possible familial ILD with a genetic component. The test identified the presence of an autosomal recessive combined immunodeficiency due to NF-κB inducing kinase (NIK) deficiency associated with the MAP3K14 gene leading to the suspicion of a familial ILD.

Discussion
Genetic testing is essential for diagnosis of ILD, especially in young patients with a family history. Antifibrotics are the only available option for such cases; if immunosuppressive therapy should be initiated still remains a question. Is a lung transplant a realistic solution in such cases?

Conclusions
Familial aggregation and genetic changes should be sought for in diffuse ILD diagnosis.

Interstitial lung disease with genetic susceptibility: case report

‘Victor Babes’ University of Medicine and Pharmacy

Victor Babes University of Medicine and Pharmacy, Center for Research and Innovation in Precision Medicine of Respiratory Diseases (CRIPMRD)

Pneumologia

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

{"article-title":"Interstitial lung disease with genetic susceptibility: case report"}

Introduction
Interstitial lung disease (ILD) includes more than 200 progressive conditions classified based on common clinical, imaging or pathophysiological...

Interstitial lung disease with genetic susceptibility: case report

Published Online: Oct 17, 2023

Page range: 54 - 59

DOI: https://doi.org/10.2478/pneum-2023-0020

Keywords
ILD, NSIP, familial aggregation, young patient, genetic evaluation

© 2022 Aleksandra Ana et al., published by Sciendo

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

Interstitial lung disease with genetic susceptibility: case report

Published Online: Oct 17, 2023

Page range: 54 - 59

DOI: https://doi.org/10.2478/pneum-2023-0020

KeywordsILD, NSIP, familial aggregation, young patient, genetic evaluation

© 2022 Aleksandra Ana et al., published by Sciendo

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

Keywords
ILD, NSIP, familial aggregation, young patient, genetic evaluation