A new mutation of surfactant protein C gene causing severe respiratory insufficiency and pulmonary fibrosis

F. Petreschi, T. Salerno, D. Peca, M.B. Chiarini Testa, A. Schiavino, M.G. Paglietti, O. Danhaive, R. Cutrera (Rome, Italy)

Source: Annual Congress 2012 - Paediatric bronchology
Session: Paediatric bronchology
Session type: Poster Discussion
Number: 3342
Disease area: Interstitial lung diseases, Paediatric lung diseases

Congress or journal article abstractE-poster

Rating: 0
You must login to grade this presentation.

Share or cite this content

Citations should be made in the following way:
F. Petreschi, T. Salerno, D. Peca, M.B. Chiarini Testa, A. Schiavino, M.G. Paglietti, O. Danhaive, R. Cutrera (Rome, Italy). A new mutation of surfactant protein C gene causing severe respiratory insufficiency and pulmonary fibrosis. Eur Respir J 2012; 40: Suppl. 56, 3342

You must login to share this Presentation/Article on Twitter, Facebook, LinkedIn or by email.

Member's Comments

No comment yet.
You must Login to comment this presentation.


Related content which might interest you:
A novel non-BRICHOS surfactant protein C mutation causing infantile interstitial lung disease is associated with reduced mature SP-C level
Source: International Congress 2018 – Orphan diseases in children
Year: 2018


Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias
Source: Eur Respir J 2007; 29: 134-137
Year: 2007



Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene
Source: Eur Respir J 2004; 24: 30-39
Year: 2004



Surfactant protein gene A, B, and D marker alleles in chronic obstructive pulmonary disease of a Mexican population
Source: Eur Respir J 2001; 18: 482-490
Year: 2001



Role of ABCA3 in paediatric interstitial lung disease associated with surfactant protein C gene mutations
Source: Annual Congress 2009 - Genetics of lung diseases
Year: 2009

T-box protein 4 mutation causing pulmonary arterial hypertension and lung disease
Source: Eur Respir J, 54 (2) 1900388; 10.1183/13993003.00388-2019
Year: 2019



Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations
Source: Eur Respir J 2014; 43: 638-641
Year: 2013


Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred
Source: Eur Respir J 2011; 38: 861-869
Year: 2011



Comparison of pulmonary function and level of immunoglobulin E between tuberculous destroyed lung and chronic obstructive pulmonary disease
Source: Eur Respir J 2005; 26: Suppl. 49, 656s
Year: 2005

Prolidase deficiency: a new genetic cause of combined pulmonary fibrosis and emphysema syndrome in the adult
Source: Eur Respir J, 55 (4) 1901952; 10.1183/13993003.01952-2019
Year: 2020



Evaluation of functional capacity and pulmonary functions during acute pulmonary exacerbation in children with cystic fibrosis
Source: Virtual Congress 2020 – Exercise tolerance and functional status across respiratory diseases
Year: 2020


Is heart type fatty acid binding protein a marker of cardiac damage in patients with acute attacks of chronic obstructive pulmonary disease?
Source: Annual Congress 2008 - Structural remodelling in COPD
Year: 2008


Pulmonary function of infants with cystic fibrosis, with and without respiratory symptoms
Source: Eur Respir J 2002; 20: Suppl. 38, 529s
Year: 2002

Elastin expression in very severe human COPD
Source: Eur Respir J 2009; 33: 324-331
Year: 2009



Prognostic value of right ventricular function in patients with severe pulmonary hypertension associated with respiratory disease
Source: Annual Congress 2013 –Pulmonary circulation: clinical pulmonary hypertension I
Year: 2013

Serum surfactant protein D (SP-D) and annual decline of diffusion capacity are prognostic factors for combined pulmonary fibrosis with emphysema (CPFE) in idiopathic pulmonary fibrosis (IPF)
Source: Annual Congress 2013 –Clinical respiratory physiology in different diseases
Year: 2013


Polymorphic variation in surfactant protein B is associated with COPD exacerbations
Source: Eur Respir J 2008; 32: 938-944
Year: 2008



Titrated oxygen requirement and prognostication in idiopathic pulmonary fibrosis
Source: Eur Respir J 2012; 39: 359-365
Year: 2012



Surfactant protein C mutations and familial pulmonary fibrosis: stuck in a loop on the scenic route
Source: Eur Respir J, 59 (1) 2102147; 10.1183/13993003.02147-2021
Year: 2022