Surfactant protein disorders in childhood interstitial lung disease

2021 ◽  
Author(s):  
Jagdev Singh ◽  
Adam Jaffe ◽  
André Schultz ◽  
Hiran Selvadurai
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Surfactant Protein ◽  
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.

scholarly journals Evaluation of usefulness in surfactant protein D as a predictor of mortality in myositis-associated interstitial lung disease

PLoS ONE ◽  
2020 ◽  
Vol 15 (6) ◽  
pp. e0234523
Author(s):  
Shinjiro Kaieda ◽  
Takahisa Gono ◽  
Kenichi Masui ◽  
Naoshi Nishina ◽  
Shinji Sato ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Surfactant Protein ◽  
Surfactant Protein D

Clinical Characteristics and Genetic Analysis of Interstitial Lung Disease in Chinese Children (Genes and Interstitial Lung Disease)

2021 ◽  
Author(s):  
Mei-Xia Huang ◽  
Lu Qin ◽  
Fei-Zhou Zhang ◽  
Lei Wu ◽  
Jia-Hui Yu ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Clinical Characteristics ◽  
Clinical Manifestations ◽  
Failure To Thrive ◽  
Surfactant Protein ◽  
Chinese Children ◽  
Common Mutation ◽  
Onset Age ◽  
Surfactant Dysfunction

Abstract BackgroundMutation in the surfactant protein C gene (SFTPC) is a cause of interstitial lung disease (ILD). Our objective was to investigate the clinical characteristics, outcome and influencing factors of ILD in Chinese children with SFTPC mutations.MethodA total of 8 Chinese children with ILD heterozygous for SFTPC mutations that were treated in our hospital from January 2014 to December 2020 were included in our study. Candidate genes responsible for surfactant dysfunction were sequenced by next-generation sequencing. The clinical and genetic data were reviewed retrospectively.ResultsThe children’s onset age was before the age of 2 years, and one case was just after birth. The most significant clinical manifestations were cough, tachypnea, hypoxemia and failure to thrive. The most common mutation was p. lle73Thr, which accounted for 87.5% (7/8) of our patients. Four patients whose onset was within 3 months, including 3 children with CMV infection, died. Conclusionp. lle73Thr mutation of SFTPC was an important and common cause of ILD in the Chinese children. The clinical manifestations of ILD associated with this mutation are not specific. The severity and outcome of the disease may be affected by factors such as onset age and viral infection.

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
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