An SFTPC gene mutation causes childhood interstitial lung disease: first report in the Arab region

BACKGROUND: Surfactant protein C dysfunction is one of the causes of childhood interstitial lung disease but has not previously been reported in Arabian countries. CASE PRESENTATION: A six-year-old girl had presented at the age of eight months old with bronchiolitis followed by a persistent cough, d...

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Autores principales: Alzaid, Mohammed A, Eltahir, Safa, Amin Ur Rahman, Muhammad, Alotaibi, Wadha, Mobaireek, Khalid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011330/
https://www.ncbi.nlm.nih.gov/pubmed/32095252
http://dx.doi.org/10.1177/2054270419894821
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author Alzaid, Mohammed A
Eltahir, Safa
Amin Ur Rahman, Muhammad
Alotaibi, Wadha
Mobaireek, Khalid
author_facet Alzaid, Mohammed A
Eltahir, Safa
Amin Ur Rahman, Muhammad
Alotaibi, Wadha
Mobaireek, Khalid
author_sort Alzaid, Mohammed A
collection PubMed
description BACKGROUND: Surfactant protein C dysfunction is one of the causes of childhood interstitial lung disease but has not previously been reported in Arabian countries. CASE PRESENTATION: A six-year-old girl had presented at the age of eight months old with bronchiolitis followed by a persistent cough, dyspnea and hypoxaemia. She was found to have gastroesophageal reflux disease, but her symptoms did not resolve despite her therapy being optimised. Further tests, including a chest computed tomographic scan, lung biopsy and genetic testing, confirmed a diagnosis of surfactant protein C dysfunction. CONCLUSION: We report the first case in the Arab region of childhood interstitial lung disease caused by surfactant protein C deficiency.
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spelling pubmed-70113302020-02-24 An SFTPC gene mutation causes childhood interstitial lung disease: first report in the Arab region Alzaid, Mohammed A Eltahir, Safa Amin Ur Rahman, Muhammad Alotaibi, Wadha Mobaireek, Khalid JRSM Open Case Report BACKGROUND: Surfactant protein C dysfunction is one of the causes of childhood interstitial lung disease but has not previously been reported in Arabian countries. CASE PRESENTATION: A six-year-old girl had presented at the age of eight months old with bronchiolitis followed by a persistent cough, dyspnea and hypoxaemia. She was found to have gastroesophageal reflux disease, but her symptoms did not resolve despite her therapy being optimised. Further tests, including a chest computed tomographic scan, lung biopsy and genetic testing, confirmed a diagnosis of surfactant protein C dysfunction. CONCLUSION: We report the first case in the Arab region of childhood interstitial lung disease caused by surfactant protein C deficiency. SAGE Publications 2020-02-10 /pmc/articles/PMC7011330/ /pubmed/32095252 http://dx.doi.org/10.1177/2054270419894821 Text en © The Author(s) 2020 http://creativecommons.org/licenses/by-nc/3.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 3.0 License (http://www.creativecommons.org/licenses/by-nc/3.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Alzaid, Mohammed A
Eltahir, Safa
Amin Ur Rahman, Muhammad
Alotaibi, Wadha
Mobaireek, Khalid
An SFTPC gene mutation causes childhood interstitial lung disease: first report in the Arab region
title An SFTPC gene mutation causes childhood interstitial lung disease: first report in the Arab region
title_full An SFTPC gene mutation causes childhood interstitial lung disease: first report in the Arab region
title_fullStr An SFTPC gene mutation causes childhood interstitial lung disease: first report in the Arab region
title_full_unstemmed An SFTPC gene mutation causes childhood interstitial lung disease: first report in the Arab region
title_short An SFTPC gene mutation causes childhood interstitial lung disease: first report in the Arab region
title_sort sftpc gene mutation causes childhood interstitial lung disease: first report in the arab region
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011330/
https://www.ncbi.nlm.nih.gov/pubmed/32095252
http://dx.doi.org/10.1177/2054270419894821
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