| Autor: |
María Beatriz, Milet, Patricia, Mena N, Héctor I, Pérez, Tatiana, Espinoza |
| Rok vydání: |
2015 |
| Předmět: |
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| Zdroj: |
Revista chilena de pediatria. 87(6) |
| ISSN: |
0717-6228 |
| Popis: |
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.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.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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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