Literature DB >> 20118944

Neonatal respiratory failure due to a novel mutation in the surfactant protein C gene.

B S Poterjoy1, Y Vibert, M Sola-Visner, J McGowan, G Visner, L M Nogee.   

Abstract

A full-term infant developed respiratory distress immediately after birth, requiring a prolonged course of extra-corporeal membrane oxygenation, followed by high-frequency ventilation. She was unable to wean off mechanical ventilation, required tracheostomy, and ultimately lung transplantation. A novel mutation in the surfactant C protein gene was identified as the cause of her lung disease.

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Year:  2010        PMID： 20118944     DOI： 10.1038/jp.2009.97

Source DB:  PubMed          Journal:  J Perinatol        ISSN： 0743-8346            Impact factor:   2.521


  8 in total

1.  Chronic ventilation in infants with surfactant protein C mutations: an alternative to lung transplantation.

Authors:  Deborah R Liptzin; Tarak Patel; Robin R Deterding
Journal:  Am J Respir Crit Care Med       Date:  2015-06-01       Impact factor: 21.405

2.  Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism.

Authors:  Whitney B Eldridge; Qunyuan Zhang; Albert Faro; Stuart C Sweet; Pirooz Eghtesady; Aaron Hamvas; F Sessions Cole; Jennifer A Wambach
Journal:  J Pediatr       Date:  2017-02-16       Impact factor: 4.406

3.  Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate.

Authors:  Hussain Parappil; Ahmad Al Baridi; Sajjad ur Rahman; Mahmood H Kitchi; P Ruef; M Griese; P Lohse; C Aslanidis; G Schmitz; L Koch; J Poeschl
Journal:  BMJ Case Rep       Date:  2011-03-03

4.  Genetic basis for childhood interstitial lung disease among Japanese infants and children.

Authors:  Itaru Hayasaka; Kazutoshi Cho; Takuma Akimoto; Masahiko Ikeda; Yutaka Uzuki; Masafumi Yamada; Koh Nakata; Itsuko Furuta; Tadashi Ariga; Hisanori Minakami
Journal:  Pediatr Res       Date:  2017-11-01       Impact factor: 3.756

5.  Child Interstitial Lung Disease in an Infant with Surfactant Protein C Dysfunction due to c.202G>T Variant (p.V68F).

Authors:  Hyunbin Park; Aneela Bidiwala; Laura A Conrad; Nasr Aborawi; Michelle Ewart; Maureen Josephson; Lawrence M Nogee; Raanan Arens
Journal:  Lung       Date:  2022-01-16       Impact factor: 2.584

6.  Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress.

Authors:  Jeroen van Hoorn; Arno Brouwers; Matthias Griese; Boris Kramer
Journal:  BMJ Case Rep       Date:  2014-03-19

7.  Clinical and genetic spectrum of interstitial lung disease in Chinese children associated with surfactant protein C mutations.

Authors:  Da Hong; Dan Dai; Jing Liu; Congcong Zhang; Tingting Jin; Yanyan Shi; Gaoli Jiang; Mei Mei; Libo Wang; Liling Qian
Journal:  Ital J Pediatr       Date:  2019-08-28       Impact factor: 2.638

8.  Childhood interstitial lung disease due to surfactant protein C deficiency: frequent use and costs of hospital services for a single case in Australia.

Authors:  Neil J Hime; Dominic Fitzgerald; Paul Robinson; Hiran Selvadurai; Peter Van Asperen; Adam Jaffé; Yvonne Zurynski
Journal:  Orphanet J Rare Dis       Date:  2014-03-19       Impact factor: 4.123
  8 in total

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