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 Genotype alone does not predict the clinical course ofSFTPCdeficiency in paediatric patients

2015 ◽  
Vol 46 (1) ◽  
pp. 197-206 ◽  
Author(s):  
Carolin Kröner ◽  
Simone Reu ◽  
Veronika Teusch ◽  
Andrea Schams ◽  
Ann-Christin Grimmelt ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Protein C ◽  
Cyst Formation ◽  
Surfactant Protein ◽  
Protein C Deficiency ◽  
Surfactant Protein C ◽  
Protein Amino Acids ◽  
Heterozygous Carriers

Patients with interstitial lung disease due to surfactant protein C (SFTPC) mutations are rare and not well characterised.We report on all subjects collected over a 15-year period in the kids-lung register with interstitial lung disease and a provenSFTPCmutation. We analysed clinical courses, interventions and outcomes, as well as histopathological and radiological interrelations.17 patients (seven male) were followed over a median of 3 years (range 0.3–19). All patients were heterozygous carriers of autosomal dominantSFTPCmutations. Three mutations (p.L101P, p.E191 K and p.E191*) have not been described before in the context of surfactant protein C deficiency. Patients with alterations in the BRICHOS domain of the protein (amino acids 94–197) presented earlier. At follow-up, one patient was healthy (2 years), six patients were “sick-better” (2.8 years, range 0.8–19), seven patients were “sick-same” (6.5 years, 1.3–15.8) and three patients were “sick-worse” (0.3 years, 0.3–16.9). Radiological findings changed from ground-glass to increasing signs of fibrosis and cyst formation with increasing age. Empiric treatments had variable effects, also in patients with the same genotype.Prospective studies with randomised interventions are urgently needed and can best be performed in the framework of international registers.

scholarly journals Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation

2016 ◽  
Vol 42 (1) ◽  
Author(s):  
Teresa Salerno ◽  
Donatella Peca ◽  
Laura Menchini ◽  
Alessandra Schiavino ◽  
Renata Boldrini ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Protein C ◽  
Surfactant Protein ◽  
Surfactant Protein C

A Mutation in the Surfactant Protein C Gene Associated with Familial Interstitial Lung Disease

2001 ◽  
Vol 344 (8) ◽  
pp. 573-579 ◽  
Author(s):  
Lawrence M. Nogee ◽  
Alston E. Dunbar ◽  
Susan E. Wert ◽  
Frederic Askin ◽  
Aaron Hamvas ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Protein C ◽  
Surfactant Protein ◽  
Surfactant Protein C
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