title: [Deficiency of surfactant protein: Case report].
abstract: BACKGROUND
  Congenital surfactant deficiency is a condition infrequently diagnosed in newborns. A clinical case is presented of surfactant protein B deficiency. A review is performed on the study, treatment and differential diagnosis of surfactant protein deficiencies and infant chronic interstitial lung disease.
  
  
  METHODS
  The case is presented of a term newborn that developed respiratory distress, recurrent pulmonary opacification, and a transient response to the administration of surfactant. Immunohistochemical and genetic studies confirmed the diagnosis of surfactant protein B deficiency.
  
  
  CONCLUSIONS
  Pulmonary congenital anomalies require a high index of suspicion. Surfactant protein B deficiency is clinically progressive and fatal in the majority of the cases, similar to that of ATP binding cassette subfamily A member 3 (ABCA3) deficiency. Protein C deficiency is insidious and may present with a radiological pulmonary interstitial pattern. Due to the similarity in the histological pattern, genetic studies help to achieve greater certainty in the prognosis and the possibility of providing adequate genetic counselling.
authors.affiliation: Servicio de Neonatología, Hospital Sótero del Río, Santiago, Chile; Unidad de Neonatología, Clínica Alemana, Santiago, Chile.
authors.forename: María Beatriz
authors.initials: MB
authors.lastname: Milet
authors.affiliation: Servicio de Neonatología, Hospital Sótero del Río, Santiago, Chile; Departamento de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile. Electronic address: mena.n.patricia@gmail.com.
authors.forename: Patricia
authors.initials: P
authors.lastname: Mena N
authors.affiliation: Servicio de Neonatología, Hospital Sótero del Río, Santiago, Chile; Departamento de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile.
authors.forename: Héctor I
authors.initials: HI
authors.lastname: Pérez
authors.affiliation: Unidad de Broncopulmonar, Hospital Sótero del Río, Santiago, Chile.
authors.forename: Tatiana
authors.initials: T
authors.lastname: Espinoza
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D008297:Male; D003937:Diagnosis, Differential; D011649:Pulmonary Alveolar Proteinosis / Q000150:complications / Q000151:congenital / Q000175:diagnosis / Q000188:drug therapy; D037701:Pulmonary Surfactant-Associated Protein B / Q000172:deficiency; D011663:Pulmonary Surfactants / Q000008:administration & dosage; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology / Q000235:genetics; D017563:Lung Diseases, Interstitial
chemical_list: D037701:Pulmonary Surfactant-Associated Protein B; D011663:Pulmonary Surfactants
keywords: Congenital deficiency of surfactant protein B; Déficit congénito de proteína de surfactante; Interstitial pneumonitis; Neumonitis intersticial; Newborn; Recién nacido