Familial Clustering of Unexplained Transient Respiratory Distress in 12 Newborns from Three Unrelated Families Suggests an Autosomal-Recessive Inheritance
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 Distre...
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| Format: | Article |
| Language: | English |
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Wiley
2007-01-01
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| Series: | The Scientific World Journal |
| Online Access: | http://dx.doi.org/10.1100/tsw.2007.252 |
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| author | Andrea Guala Paola Carrera Guido Pastore Marco Somaschini Gina Ancora Giacomo Faldella Paolo De Filippi Federica Ferrero Roberta Guarino Cesare Danesino |
| author_facet | Andrea Guala Paola Carrera Guido Pastore Marco Somaschini Gina Ancora Giacomo Faldella Paolo De Filippi Federica Ferrero Roberta Guarino Cesare Danesino |
| author_sort | Andrea Guala |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-9dadac9079554e0b83f9b37a8171b85e |
| institution | Kabale University |
| issn | 1537-744X |
| language | English |
| publishDate | 2007-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | The Scientific World Journal |
| spelling | doaj-art-9dadac9079554e0b83f9b37a8171b85e2025-08-20T03:38:22ZengWileyThe Scientific World Journal1537-744X2007-01-0171611161610.1100/tsw.2007.252Familial Clustering of Unexplained Transient Respiratory Distress in 12 Newborns from Three Unrelated Families Suggests an Autosomal-Recessive InheritanceAndrea Guala0Paola Carrera1Guido Pastore2Marco Somaschini3Gina Ancora4Giacomo Faldella5Paolo De Filippi6Federica Ferrero7Roberta Guarino8Cesare Danesino9SOC Pediatria Osp., Castelli Verbania, ItalyLaboratorio di Biologia Molecolare Clinica, IRCCS Osp. S. Raffaele Milano, ItalySOC Pediatria, Osp. S.Andrea, Vercelli, ItalySOC Neonatologia e Patologia Neonatale, Osp. Bolognini, Seriate, ItalyIstituto di Neonatologia, Università di Bologna, ItalyIstituto di Neonatologia, Università di Bologna, ItalyGenetica Medica, Università di Pavia e IRCCS S. Matteo, Pavia, ItalyClinica Pediatrica, Università del Piemonte Orientale, Novara, ItalySOC Pediatria Osp., Castelli Verbania, ItalyGenetica Medica, Università di Pavia e IRCCS S. Matteo, Pavia, ItalyWe 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.http://dx.doi.org/10.1100/tsw.2007.252 |
| spellingShingle | Andrea Guala Paola Carrera Guido Pastore Marco Somaschini Gina Ancora Giacomo Faldella Paolo De Filippi Federica Ferrero Roberta Guarino Cesare Danesino Familial Clustering of Unexplained Transient Respiratory Distress in 12 Newborns from Three Unrelated Families Suggests an Autosomal-Recessive Inheritance The Scientific World Journal |
| title | Familial Clustering of Unexplained Transient Respiratory Distress in 12 Newborns from Three Unrelated Families Suggests an Autosomal-Recessive Inheritance |
| title_full | Familial Clustering of Unexplained Transient Respiratory Distress in 12 Newborns from Three Unrelated Families Suggests an Autosomal-Recessive Inheritance |
| title_fullStr | Familial Clustering of Unexplained Transient Respiratory Distress in 12 Newborns from Three Unrelated Families Suggests an Autosomal-Recessive Inheritance |
| title_full_unstemmed | Familial Clustering of Unexplained Transient Respiratory Distress in 12 Newborns from Three Unrelated Families Suggests an Autosomal-Recessive Inheritance |
| title_short | Familial Clustering of Unexplained Transient Respiratory Distress in 12 Newborns from Three Unrelated Families Suggests an Autosomal-Recessive Inheritance |
| title_sort | familial clustering of unexplained transient respiratory distress in 12 newborns from three unrelated families suggests an autosomal recessive inheritance |
| url | http://dx.doi.org/10.1100/tsw.2007.252 |
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