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01-06-2008 | Short Report

Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress

Authors: Takuya Yokota, Yoshihiro Matsumura, Nobuhiro Ban, Tadashi Matsubayashi, Nobuya Inagaki

Published in: European Journal of Pediatrics | Issue 6/2008

Abstract

A boy without symptoms up to 12 months of age started with persisting cough followed by respiratory failure at 18 months of age, resulting in mechanical ventilation because of alveolar proteinosis. Lung biopsy showed PAS-positive material. PCR was negative for CMV, Pneumocystis jiroveci and adenovirus. BALF showed mature SP-B. Analysis of the ATP-binding cassette transporter A3 (ABCA3; OMIM 601615) gene showed a compound heterozygous mutation from paternal W1148X and maternal T1114A. Alveolar lavage with 720 mg of bovine surfactant allowed weaning from ventilator support. Heterozygous mutation in the ABCA3 gene could be associated with a milder evolution as compared to the homozygous frequently lethal evolution.

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Title: Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress
Authors: Takuya Yokota
Yoshihiro Matsumura
Nobuhiro Ban
Tadashi Matsubayashi
Nobuya Inagaki
Publication date: 01-06-2008
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 6/2008
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-007-0542-8

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Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress

Abstract

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

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