Familial Clustering of Unexplained Transient Respiratory Distress in 12 Newborns from Three Unrelated Families Suggests an Autosomal-Recessive Inheritance
| Autor: | Giacomo Faldella, Cesare Danesino, Roberta Guarino, Andrea Guala, Gina Ancora, Guido Pastore, Paolo De Filippi, Marco Somaschini, Federica Ferrero, Paola Carrera |
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| Přispěvatelé: | Guala A, Carrera P, Pastore G, Somaschini M, Ancora G, Faldella G, De Filippi P, Ferrero F, Guarino R, Danesino C. |
| Jazyk: | angličtina |
| Rok vydání: | 2007 |
| Předmět: |
Male
Heterozygote Neonatal respiratory distress syndrome Pediatrics medicine.medical_specialty lcsh:Medicine Familial clustering Transient tachypnea of the newborn lcsh:Technology Infant Newborn Diseases General Biochemistry Genetics and Molecular Biology newborn respiratory distress medicine Humans Genetic Predisposition to Disease Cumulative incidence Risk factor lcsh:Science General Environmental Science Respiratory Distress Syndrome Newborn Lung Case Study Autosomal recessive inheritance Respiratory distress business.industry lcsh:T lcsh:R Infant Newborn General Medicine medicine.disease Pedigree medicine.anatomical_structure Italy Female familial clustering lcsh:Q business |
| Zdroj: | The Scientific World Journal, Vol 7, Pp 1611-1616 (2007) The Scientific World Journal |
| Popis: | We report on 12 near-term babies from three families in which an unexplained transient respiratory distress was observed. No known risk factor was present in any family and no sequelae were recorded at follow-up. The most common causes of respiratory distress at birth are Neonatal Respiratory Distress Syndrome (NRD) and Transient Tachypnea of the Newborn (TTN), and their cumulative incidence is estimated to be about 2%. Genetic factors have been identified in NRD (surfactant genes) or suggested for TTN (genes affecting lung liquid clearance). Survivors from NRD may develop clinically relevant sequelae, while TTN does not cause any problem later in life. Our cases do not immediately fit NRD or TTN, while familial recurrence suggests the existence of a previously unreported subgroup on patients with respiratory distress for which autosomal-recessive inheritance is likely. |
| Databáze: | OpenAIRE |
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