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Article

Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report.

Journal of perinatology : official journal of the California Perinatal Association - 1 Jan 2011

Ciantelli M, Ghirri P, Presi S, Sigali E, Vuerich M, Somaschini M, Ferrari M, Boldrini A, Carrera P

Abstract excerpt

Genetic mutations associated with pulmonary surfactant protein deficiency are associated with diverse clinical phenotypes. Mutations of the surfactant protein B and C genes were the first to be described. In 2004, fatal surfactant deficiency in newborns due to mutations of the gene encoding the adenosine triphosphate-binding cassette transporter A3 (ABCA3) was first reported. Few cases of lethal adenosine...

Topics

ATP-Binding Cassette Transporters
Continuous Positive Airway Pressure
Fatal Outcome
Humans
Infant, Newborn
Male
Mutation
Radiography, Thoracic
Recurrence
Respiratory Distress Syndrome, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Respiratory Insufficiency

Retreatment

Tomography, X-Ray Computed

Treatment Failure

Source

Identifiers

PMID: 21189475
DOI: 10.1038/jp.2010.122

Genes

ABCA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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