[Neonatal respiratory failure associated with mutation in the surfactant protein C gene].
Respiratory insufficiency in a term infant during the first weeks of life is unusual. Possible causes include interstitial or diffuse lung disease, which are a heterogeneous group of mostly idiopathic disorders, characterized by diffuse infiltrates, restrictive functional defect, and disordered gas exchange. A form of interstitial lung disease that can affect infants, children or young adults is that associated with congenital surfactant protein B or C deficiency, in which the inflammatory process leading to interstitial fibrosis is preceded by the accumulation of proteinaceous material in the alveolar space. We assessed the role of potential abnormalities in the surfactant proteins B and C in a Spanish family in which two infants showed progressive neonatal respiratory failure associated with radiological and pathological alterations compatible with interstitial lung disease. The father had a history of respiratory disease since childhood. The two affected children in this family had abnormal expression of surfactant C precursor protein, with markedly decreased levels of the mature protein. Moreover, a previously unreported mutation in the gene encoding surfactant protein C, which was found in this family, is described.
Alzina de Aguilar
V
V
Departamento de Pediatría, Clínica Universitaria de Navarra, Pamplona, Spain. valzina@unav.es
Gaboli
M
M
Bastero Miñon
P
P
Romero Montero
A
A
de Alava
E
E
D000328:Adult; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017563:Lung Diseases, Interstitial / Q000235:genetics / Q000378:metabolism; D008297:Male; D009154:Mutation; D010375:Pedigree; D011658:Pulmonary Fibrosis / Q000235:genetics / Q000378:metabolism; D037701:Pulmonary Surfactant-Associated Protein B / Q000378:metabolism; D037721:Pulmonary Surfactant-Associated Protein C / Q000172:deficiency / Q000235:genetics*; D011663:Pulmonary Surfactants / Q000378:metabolism; D012131:Respiratory Insufficiency / Q000235:genetics* / Q000378:metabolism
D037701:Pulmonary Surfactant-Associated Protein B; D037721:Pulmonary Surfactant-Associated Protein C; D011663:Pulmonary Surfactants