Pulmonary Manifestations of Genetic Disorders in Children.
Pediatr Clin North Am
; 68(1): 1-24, 2021 02.
Article
en En
| MEDLINE
| ID: mdl-33228926
ABSTRACT
Congenital bronchopulmonary malformations are relatively common and arise during various periods of morphogenesis. Although some are isolated or sporadic occurrences, others may result from single gene mutations or cytogenetic imbalances. Single gene mutations have been identified, which are etiologically related to primary pulmonary hypoplasia, lung segmentation defects as well as pulmonary vascular and lymphatic lesions. Functional defects in cystic fibrosis, primary ciliary dyskinesias, alpha-1-antitrypsin deficiency, and surfactant proteins caused by gene mutations may result in progressive pulmonary disease. This article provides an overview of pediatric pulmonary disease from a genetic perspective.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Anomalías del Sistema Respiratorio
/
Enfermedades Pulmonares
Límite:
Child
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Child, preschool
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Humans
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Infant
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Newborn
Idioma:
En
Revista:
Pediatr Clin North Am
Año:
2021
Tipo del documento:
Article