Literature DB >> 33359301

Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course.

Xin Si1, Lea C Steffes2, Jennifer C Schymick3, Florette K Hazard4, Michael C Tracy2, David N Cornfield2.   

Abstract

ABCA3 deficiency is a rare cause of neonatal respiratory failure. Biallelic complete loss of function variants lead to neonatal demise without lung transplantation, but children with partial function variants have variable outcomes. The favorable clinical course of 3 such infants presenting with respiratory distress at birth is described.
Copyright © 2020 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  ABCA3; neonatal respiratory failure; surfactant deficiency

Mesh：

Substances：

Year:  2020        PMID： 33359301      PMCID： PMC8031471          DOI： 10.1016/j.jpeds.2020.12.055

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  37 in total

Review 1.  Childhood interstitial lung diseases: an 18-year retrospective analysis.

Authors:  Jennifer J Soares; Gail H Deutsch; Paul E Moore; Mohammad F Fazili; Eric D Austin; Rebekah F Brown; Andrew G Sokolow; Melissa A Hilmes; Lisa R Young
Journal:  Pediatrics       Date:  2013-09-30       Impact factor: 7.124

2.  Hydroxychloroquine inhibits calcium signals in T cells: a new mechanism to explain its immunomodulatory properties.

Authors:  F D Goldman; A L Gilman; C Hollenback; R M Kato; B A Premack; D J Rawlings
Journal:  Blood       Date:  2000-06-01       Impact factor: 22.113

3.  Functional rescue of misfolding ABCA3 mutations by small molecular correctors.

Authors:  Susanna Kinting; Stefanie Höppner; Ulrike Schindlbeck; Maria E Forstner; Jacqueline Harfst; Thomas Wittmann; Matthias Griese
Journal:  Hum Mol Genet       Date:  2018-03-15       Impact factor: 6.150

4.  ABCA3 mutations associated with pediatric interstitial lung disease.

Authors:  Janine E Bullard; Susan E Wert; Jeffrey A Whitsett; Michael Dean; Lawrence M Nogee
Journal:  Am J Respir Crit Care Med       Date:  2005-06-23       Impact factor: 21.405

5.  Ultrastructural characterization of genetic diffuse lung diseases in infants and children: a cohort study and review.

Authors:  Arianna Citti; Donatella Peca; Stefania Petrini; Renato Cutrera; Paolo Biban; Cristina Haass; Renata Boldrini; Olivier Danhaive
Journal:  Ultrastruct Pathol       Date:  2013-10       Impact factor: 1.094

6.  Association between surfactant protein B + 1580 polymorphism and the risk of respiratory failure in adults with community-acquired pneumonia.

Authors:  Michael W Quasney; Grant W Waterer; Mary K Dahmer; Grace K Kron; Qing Zhang; Lori A Kessler; Richard G Wunderink
Journal:  Crit Care Med       Date:  2004-05       Impact factor: 7.598

7.  Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

Authors:  Jennifer A Wambach; Alicia M Casey; Martha P Fishman; Daniel J Wegner; Susan E Wert; F Sessions Cole; Aaron Hamvas; Lawrence M Nogee
Journal:  Am J Respir Crit Care Med       Date:  2014-06-15       Impact factor: 21.405

8.  Lung disease caused by ABCA3 mutations.

Authors:  Carolin Kröner; Thomas Wittmann; Simone Reu; Veronika Teusch; Mathias Klemme; Daniela Rauch; Meike Hengst; Matthias Kappler; Nazan Cobanoglu; Tugba Sismanlar; Ayse T Aslan; Ilaria Campo; Marijke Proesmans; Thomas Schaible; Susanne Terheggen-Lagro; Nicolas Regamey; Ernst Eber; Jürgen Seidenberg; Nicolaus Schwerk; Charalampos Aslanidis; Peter Lohse; Frank Brasch; Ralf Zarbock; Matthias Griese
Journal:  Thorax       Date:  2016-08-11       Impact factor: 9.139

9.  ABCA3 gene mutations in newborns with fatal surfactant deficiency.

Authors:  Sergey Shulenin; Lawrence M Nogee; Tarmo Annilo; Susan E Wert; Jeffrey A Whitsett; Michael Dean
Journal:  N Engl J Med       Date:  2004-03-25       Impact factor: 91.245

10.  Unusual long survival despite severe lung disease of a child with biallelic loss of function mutations in ABCA-3.

Authors:  P El Boustany; R Epaud; C Grosse; F Barriere; E Grimont-Rolland; A Carsin; J C Dubus
Journal:  Respir Med Case Rep       Date:  2018-03-06
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  1 in total

1.  Diagnostic Challenges in Neonatal Respiratory Distress-Congenital Surfactant Metabolism Dysfunction Caused by ABCA3 Mutation.

Authors:  Justyna Rogulska; Katarzyna Wróblewska-Seniuk; Robert Śmigiel; Jarosław Szydłowski; Tomasz Szczapa
Journal:  Diagnostics (Basel)       Date:  2022-04-26
  1 in total

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