Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8813682 | Revista Chilena de Pediatría | 2016 | 4 Pages |
Abstract
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.
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Authors
MarÃa Beatriz Milet, Patricia Mena N., Héctor I. Pérez, Tatiana Espinoza,