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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Published in | TheScientificWorld Vol. 7; pp. 1611 - 1616 |
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Main Authors | , , , , , , , , , |
Format | Journal Article |
Language | English |
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United States
TheScientificWorldJOURNAL
28.09.2007
Hindawi Limited |
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Abstract | 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. |
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AbstractList | 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. |
Author | Ferrero, Federica Carrera, Paola Somaschini, Marco Pastore, Guido Danesino, Cesare Faldella, Giacomo De Filippi, Paolo Ancora, Gina Guarino, Roberta Guala, Andrea |
AuthorAffiliation | 3 SOC Pediatria, Osp. S.Andrea, Vercelli, Italy 6 Genetica Medica, Università di Pavia e IRCCS S. Matteo, Pavia, Italy 7 Clinica Pediatrica, Università del Piemonte Orientale, Novara, Italy 2 Laboratorio di Biologia Molecolare Clinica, IRCCS Osp. S. Raffaele Milano, Italy 1 SOC Pediatria Osp., Castelli Verbania, Italy 5 Istituto di Neonatologia, Università di Bologna, Italy 4 SOC Neonatologia e Patologia Neonatale, Osp. Bolognini, Seriate, Italy |
AuthorAffiliation_xml | – name: 6 Genetica Medica, Università di Pavia e IRCCS S. Matteo, Pavia, Italy – name: 5 Istituto di Neonatologia, Università di Bologna, Italy – name: 2 Laboratorio di Biologia Molecolare Clinica, IRCCS Osp. S. Raffaele Milano, Italy – name: 1 SOC Pediatria Osp., Castelli Verbania, Italy – name: 3 SOC Pediatria, Osp. S.Andrea, Vercelli, Italy – name: 7 Clinica Pediatrica, Università del Piemonte Orientale, Novara, Italy – name: 4 SOC Neonatologia e Patologia Neonatale, Osp. Bolognini, Seriate, Italy |
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SubjectTerms | Case Study Female Genetic Predisposition to Disease - genetics Heterozygote Humans Infant, Newborn Infant, Newborn, Diseases - classification Infant, Newborn, Diseases - diagnosis Infant, Newborn, Diseases - genetics Italy Male Pedigree Respiratory Distress Syndrome, Newborn - classification Respiratory Distress Syndrome, Newborn - diagnosis Respiratory Distress Syndrome, Newborn - genetics |
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Title | Familial clustering of unexplained transient respiratory distress in 12 newborns from three unrelated families suggests an autosomal-recessive inheritance |
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