scholarly journals Filamin A (FLNA ) mutation-A newcomer to the childhood interstitial lung disease (ChILD) classification

2017 ◽  
Vol 52 (10) ◽  
pp. 1306-1315 ◽  
Author(s):  
Susan C. Shelmerdine ◽  
Thomas Semple ◽  
Colin Wallis ◽  
Paul Aurora ◽  
Shahin Moledina ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Filamin A ◽  
Childhood Interstitial Lung Disease

Childhood interstitial lung disease: short lessons from telomeres

Thorax ◽  
2021 ◽  
pp. thoraxjnl-2021-217479
Author(s):  
Sormeh Salehian ◽  
Tom Semple ◽  
Rishi Pabary
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Childhood Interstitial Lung Disease

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

JRSM Open ◽  
2020 ◽  
Vol 11 (2) ◽  
pp. 205427041989482
Author(s):  
Mohammed A Alzaid ◽  
Safa Eltahir ◽  
Muhammad Amin Ur Rahman ◽  
Wadha Alotaibi ◽  
Khalid Mobaireek
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Protein C ◽  
Surfactant Protein ◽  
Protein C Deficiency ◽  
Arab Region ◽  
Surfactant Protein C ◽  
Computed Tomographic ◽  
First Case ◽  
Childhood Interstitial Lung Disease

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.

Interstitial lung disease caused by filamin A gene mutations: Clinical course of three paediatric cases

2016 ◽  
Author(s):  
Julia Carlens ◽  
Timothy Price ◽  
Eva Bültmann ◽  
Florian Länger ◽  
Ulrike Hehr ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Clinical Course ◽  
Gene Mutations ◽  
Filamin A

Childhood Interstitial Lung disease: A Tertiary Single Center Experience

2019 ◽  
Author(s):  
Tugba Ramasli Gursoy ◽  
Ayse Tana Aslan ◽  
Zeynep Reyhan Onay ◽  
Tugba Sismanlar Eyuboglu
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Single Center ◽  
Single Center Experience ◽  
Childhood Interstitial Lung Disease

scholarly journals Surfactant Lipidomics in Healthy Children and Childhood Interstitial Lung Disease

PLoS ONE ◽  
2015 ◽  
Vol 10 (2) ◽  
pp. e0117985 ◽  
Author(s):  
Matthias Griese ◽  
Hannah G. Kirmeier ◽  
Gerhard Liebisch ◽  
Daniela Rauch ◽  
Ferdinand Stückler ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Healthy Children ◽  
Children And Childhood ◽  
Childhood Interstitial Lung Disease
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