Familial interstitial disease with I73T mutation: A mid‐ and long‐term study

Familial interstitial disease with I73T mutation: A mid‐ and long‐term study

Source :

• Pediatric Pulmonology [ 8755-6863 ] ; 2009-02.

Descripteurs français

• KwdFr :
  • Adolescent, Adulte, Enfant d'âge préscolaire, Facteurs temps, Femelle, Humains, Mâle, Nourrisson, Pedigree, Pneumopathies interstitielles (anatomopathologie), Pneumopathies interstitielles (génétique), Protéine C associée au surfactant pulmonaire (génétique), Âge de début.
• MESH :
  • anatomopathologie : Pneumopathies interstitielles.
  • génétique : Pneumopathies interstitielles, Protéine C associée au surfactant pulmonaire.
• Pascal (Inist)
  • Agent surface, Corticostéroïde, Enfant, Fibrose, Gène, Hypertension artérielle pulmonaire, Interstitiel, Long terme, Maladie familiale, Mutation, Pneumologie, Pneumopathie interstitielle, Protéine C, Pédiatrie, Surfactant pulmonaire.
• MESH :
  • Adolescent, Adulte, Enfant d'âge préscolaire, Facteurs temps, Femelle, Humains, Mâle, Nourrisson, Pedigree, Âge de début.
• Wicri :
  • topic : Enfant, Pédiatrie.

English descriptors

• KwdEn :
  • Adolescent, Adult, Age of Onset, Child, Child, Preschool, Corticosteroid, Familial disease, Female, Fibrosis, Gene, Humans, Infant, Interstitial, Interstitial pneumonitis, Long term, Lung Diseases, Interstitial (genetics), Lung Diseases, Interstitial (pathology), Male, Mutation, Pediatrics, Pedigree, Pneumology, Protein C, Pulmonary Surfactant-Associated Protein C (genetics), Pulmonary hypertension, Pulmonary surfactant, Surfactant, Time Factors.
• MESH :
  • chemical , genetics : Pulmonary Surfactant-Associated Protein C.
  • genetics : Lung Diseases, Interstitial.
  • pathology : Lung Diseases, Interstitial.
• Teeft :
  • Abca3, Abca3 mutation, Abca3 mutations, Abou taam, Additional mycophenolate mofetil, Adolescent, Adult, Age of Onset, Alveolar cells hyperplasia, Alveolar cells nuclei, American thoracic society, Bacterial lipopolysaccharide, Biopsy, Brosis, Case biopsy, Cell surface, Cells nuclei, Child, Preschool, Cild, Clinical improvement, Clinical status, Clinical variability, Common mutation, Corticosteroid, Corticosteroid pulses, Corticosteroid therapy, Cyst, Endoluminal macrophage, Exertion test, Faint staining, Female, Genetic background, Genetic screening, Ground glass, Ground glass intraparenchymal subpleural cysts honeycombing, Ground glass opacities, Ground glass pattern, Histological, Histological analysis, Histological data, Honeycombing, Hopital necker enfants malades, Hopital trousseau, Hrct scan, Humans, Hypertension, Infant, Interstitial, Interstitial disease, Interstitial lung disease, Interstitial pattern, Interstitial pneumonia, Interstitial pneumonia features, Intraparenchymal, Intraparenchymal cysts, Lipid vesicles, Lung biopsies, Lung disease, Lung surfactant protein, Lung tissue, Macrophage, Macrophage glucocorticoid receptors, Maladies respiratoires rares, Male, Moraxella catarrhalis, Mutation, Nasogastric tube, Nogee, Opacity, Open lung biopsy, Oral prednisolone, Oxygen requirement, Oxygen supplementation, Pediatr, Pediatr pulmonol, Pediatric, Pediatric pulmonology, Pedigree, Phenotypic variability, Pulmonary function tests, Pulmonary hypertension, Pulmonology, Qualitative severity score, Respir, Respir crit care, Respiratory disease, Respiratory involvement, Respiratory symptom, Respiratory symptoms, Septal, Sftpc, Sftpc gene, Standard deviation, Steroid pulses, Subpleural, Subpleural cysts, Subpleural microbullae, Surfactant, Surfactant protein, Time Factors, Transient edema, Ttf1, Ttf1 staining, Uids, Unknown etiology, Western blot analysis.

Abstract

• https://api.istex.fr/ark:/67375/WNG-ZDVNQCFF-V/fulltext.pdf

Affiliations:

• France
• Île-de-France
• Paris
• Université Paris-Descartes

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