[Deficiency of surfactant protein: Case report].
| Autor: | Milet MB; Servicio de Neonatología, Hospital Sótero del Río, Santiago, Chile; Unidad de Neonatología, Clínica Alemana, Santiago, Chile., Mena N P; 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., Pérez HI; Servicio de Neonatología, Hospital Sótero del Río, Santiago, Chile; Departamento de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile., Espinoza T; Unidad de Broncopulmonar, Hospital Sótero del Río, Santiago, Chile. |
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| Jazyk: | Spanish; Castilian |
| Zdroj: | Revista chilena de pediatria [Rev Chil Pediatr] 2016 Nov - Dec; Vol. 87 (6), pp. 500-503. Date of Electronic Publication: 2016 Feb 23. |
| DOI: | 10.1016/j.rchipe.2016.01.004 |
| Abstrakt: | Introduction: 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. Case Report: 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. (Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.) |
| Databáze: | MEDLINE |
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