Interstitial pneumonia and pulmonary alveolar proteinosis in a full-term baby with a de novo heterozygote SFTPC mutation

2004 ◽  
Vol 200 (4) ◽  
pp. 361
Author(s):  
F. Brasch ◽  
M. Griese ◽  
M. Tredano ◽  
G. Johnen ◽  
M. Ochs ◽  
...  
Keyword(s):  
Interstitial Pneumonia ◽  
De Novo ◽  
Pulmonary Alveolar Proteinosis ◽  
Full Term ◽  
Alveolar Proteinosis ◽  
Term Baby

De novo complex X chromosome rearrangement unmasking maternally inheritedCSF2RAdeletion in a girl with pulmonary alveolar proteinosis

2013 ◽  
pp. n/a-n/a
Author(s):  
Julie Auger ◽  
Céline Bonnet ◽  
Mylène Valduga ◽  
Christophe Philippe ◽  
Emmanuelle Bertolo-Houriez ◽  
...  
Keyword(s):  
X Chromosome ◽  
De Novo ◽  
Pulmonary Alveolar Proteinosis ◽  
Chromosome Rearrangement ◽  
Alveolar Proteinosis

GENETIC DISORDERS OF SURFACTANT PROTEINS

2021 ◽  
Vol 100 (5) ◽  
pp. 82-89
Author(s):  
M.A. Zhestkova ◽  
◽  
D.Yu. Ovsyannikov ◽  
Keyword(s):  
Differential Diagnosis ◽  
Interstitial Pneumonia ◽  
Lung Diseases ◽  
Neonatal Period ◽  
Pulmonary Alveolar Proteinosis ◽  
Genetic Disorders ◽  
Interstitial Lung Diseases ◽  
Surfactant Proteins ◽  
Nonspecific Interstitial Pneumonia ◽  
Alveolar Proteinosis

The literature review provides up-to-date information on rare interstitial lung diseases, manifesting both in children, starting from the neonatal period, and in adults, – genetic disorders of surfactant proteins B, C, ATP-binding cassette protein A3 (ABCA3), manifested by such histopathological patterns, as chronic pneumonitis of infants, pulmonary alveolar proteinosis, desquamative interstitial pneumonia , nonspecific interstitial pneumonia. Information on epidemiology, genetics, pathogenesis, clinical picture, diagnosis and differential diagnosis, treatment of these diseases is given.

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