title: [Genetic predisposition and Pediatric Acute Respiratory Distress Syndrome: New tools for genetic study].
abstract: Acute respiratory distress syndrome (ARDS) is the most severe form of respiratory failure. Theoretically, any acute lung condition can lead to ARDS, but only a small percentage of individuals actually develop the disease. On this basis, genetic factors have been implicated in the risk of developing ARDS. Based on the pathophysiology of this disease, many candidate genes have been evaluated as potential modifiers in patient, as well as in animal models, of ARDS. Recent experimental data and clinical studies suggest that variations of genes involved in key processes of tissue, cellular and molecular lung damage may influence susceptibility and prognosis of ARDS. However, the pathogenesis of pediatric ARDS is complex, and therefore, it can be expected that many genes might contribute. Genetic variations such as single nucleotide polymorphisms and copy-number variations are likely associated with susceptibility to ARDS in children with primary lung injury. Genome-wide association (GWA) studies can objectively examine these variations, and help identify important new genes and pathogenetic pathways for future analysis. This approach might also have diagnostic and therapeutic implications, such as predicting patient risk or developing a personalized therapeutic approach to this serious syndrome.
authors.affiliation: Centro de Medicina Regenerativa, Facultad de Medicina Clínica Alemana-Universidad del Desarrollo, Santiago, Chile.
authors.forename: M Benjamín
authors.initials: MB
authors.lastname: Erranz
authors.affiliation: Departamento de Pediatría, Facultad de Medicina Clínica Alemana-Universidad del Desarrollo, Santiago, Chile.
authors.forename: B Jan
authors.initials: BJ
authors.lastname: Wilhelm
authors.affiliation: Unidad de Paciente Crítico Pediátrica, Hospital El Carmen de Maipú, Santiago, Chile.
authors.forename: V Raquel
authors.initials: VR
authors.lastname: Riquelme
authors.affiliation: Unidad de Paciente Crítico Pediátrica, Hospital El Carmen de Maipú, Santiago, Chile; Centro de Investigación de Medicina Veterinaria, Escuela de Medicina Veterinaria, Facultad de Ecología y Recursos Naturales, Universidad Andres Bello, Santiago, Chile. Electronic address: pcrucesr@gmail.com.
authors.forename: R Pablo
authors.initials: RP
authors.lastname: Cruces
mesh_terms: D055371:Acute Lung Injury; D000818:Animals; D056915:DNA Copy Number Variations; D004195:Disease Models, Animal; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D012128:Respiratory Distress Syndrome / Q000235:genetics / Q000503:physiopathology*; D012307:Risk Factors
keywords: Acute Lung Injury; Acute Respiratory Distress Syndrome; Genetics; Genome-Wide Association Study; Pediatrics; Single Nucleotide Polymorphisms; Síndrome de distrés respiratorio agudo; estudio de asociación del genoma completo; genética; lesión pulmonar aguda; pediatría; polimorfismos de nucleótido simple