Pulmonary Manifestations of Genetic Disorders in Children
Autor: | Beth A. Pletcher, Nelson L. Turcios |
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Rok vydání: | 2021 |
Předmět: |
Lung Diseases
Pathology medicine.medical_specialty Morphogenesis Pulmonary disease Single gene Gene mutation Cystic fibrosis Primary pulmonary hypoplasia 03 medical and health sciences 0302 clinical medicine 030225 pediatrics medicine Humans 030212 general & internal medicine Child Connective Tissue Diseases business.industry Infant Newborn Infant medicine.disease Lymphatic system Child Preschool Pediatrics Perinatology and Child Health Lung segmentation defects Respiratory System Abnormalities business Metabolism Inborn Errors |
Zdroj: | Pediatric Clinics of North America. 68:1-24 |
ISSN: | 0031-3955 |
Popis: | 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. |
Databáze: | OpenAIRE |
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