TY - JOUR
T1 - Genetic susceptibility to neonatal lung diseases
AU - Somaschini, Marco
AU - Castiglioni, Emanuela
AU - Presi, Silvia
AU - Volonteri, Chiara
AU - Ferrari, Maurizio
AU - Carrera, Paola
PY - 2012
Y1 - 2012
N2 - Advances in molecular genetics have enabled improvement of knowledge in pathogenesis and diagnosis of either monogenic or multifactorial neonatal lung diseases. Variants in genes regulating surfactant function and metabolism are implicated in some rare and common respiratory diseases. Congenital surfactant deficiencies are rare diseases due to mutations in genes encoding surfactant proteins and cause significant and often lethal respiratory failure in newborns and interstitial lung disease in older children. Diagnosis is made by molecular analysis and eventually confirmed by histological analysis of lung tissue. A multi-factorial contribution, resulting from interaction between multiple genes and environmental factors, has been supposed for respiratory distress syndrome (RDS) and bronchopulmonary dysplasia (BPD). Several potential candidate genes, especially regarding surfactant proteins and cytokines, have been shown in association with these diseases. Genetic variants predisposing to RDS or BPD are usually polymorphisms which are not causative, but can increase susceptibility to the disease. Identification of infants at risk of disease can be useful to provide them individualized therapies.
AB - Advances in molecular genetics have enabled improvement of knowledge in pathogenesis and diagnosis of either monogenic or multifactorial neonatal lung diseases. Variants in genes regulating surfactant function and metabolism are implicated in some rare and common respiratory diseases. Congenital surfactant deficiencies are rare diseases due to mutations in genes encoding surfactant proteins and cause significant and often lethal respiratory failure in newborns and interstitial lung disease in older children. Diagnosis is made by molecular analysis and eventually confirmed by histological analysis of lung tissue. A multi-factorial contribution, resulting from interaction between multiple genes and environmental factors, has been supposed for respiratory distress syndrome (RDS) and bronchopulmonary dysplasia (BPD). Several potential candidate genes, especially regarding surfactant proteins and cytokines, have been shown in association with these diseases. Genetic variants predisposing to RDS or BPD are usually polymorphisms which are not causative, but can increase susceptibility to the disease. Identification of infants at risk of disease can be useful to provide them individualized therapies.
KW - Bronchopulmonary dysplasia (BPD)
KW - Newborn
KW - Respiratory distress syndrome (RDS)
KW - Surfactant proteins
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M3 - Article
AN - SCOPUS:84874024289
VL - 83
SP - 12
EP - 16
JO - Acta Biomedica de l'Ateneo Parmense
JF - Acta Biomedica de l'Ateneo Parmense
SN - 0392-4203
IS - SUPPL.1
ER -