Neonatal respiratory insufficiency caused by an (homozygous) ABCA3-stop mutation: a systematic evaluation of therapeutic options.
Identifieur interne : 000300 ( PubMed/Corpus ); précédent : 000299; suivant : 000301Neonatal respiratory insufficiency caused by an (homozygous) ABCA3-stop mutation: a systematic evaluation of therapeutic options.
Auteurs : J. Winter ; S. Essmann ; A. Kidszun ; C. Aslanidis ; M. Griese ; K. Poplawska ; M. Bartsch ; G. Schmitz ; E. MildenbergerSource :
- Klinische Padiatrie [ 1439-3824 ] ; 2014.
English descriptors
- KwdEn :
- ATP-Binding Cassette Transporters (genetics), Adrenal Cortex Hormones (therapeutic use), Chromosome Aberrations, Codon, Terminator (genetics), Fatal Outcome, Female, Genes, Recessive (genetics), Homozygote, Humans, Hydroxychloroquine (therapeutic use), Infant, Infant, Newborn, Lung Diseases, Interstitial (drug therapy), Lung Diseases, Interstitial (genetics), Macrolides (therapeutic use), Mutation (genetics), Respiratory Distress Syndrome, Newborn (drug therapy), Respiratory Distress Syndrome, Newborn (genetics), Respiratory Insufficiency (drug therapy), Respiratory Insufficiency (genetics), Treatment Failure.
- MESH :
- chemical , genetics : ATP-Binding Cassette Transporters, Codon, Terminator.
- chemical , therapeutic use : Adrenal Cortex Hormones, Hydroxychloroquine, Macrolides.
- drug therapy : Lung Diseases, Interstitial, Respiratory Distress Syndrome, Newborn, Respiratory Insufficiency.
- genetics : Genes, Recessive, Lung Diseases, Interstitial, Mutation, Respiratory Distress Syndrome, Newborn, Respiratory Insufficiency.
- Chromosome Aberrations, Fatal Outcome, Female, Homozygote, Humans, Infant, Infant, Newborn, Treatment Failure.
Abstract
Autosomal recessive ABCA3 (ATP-binding cassette protein A3) gene mutations have been associated with neonatal respiratory distress and pediatric interstitial lung disease. The clinical course of the disease depends on the underlying mutations. Therefore, knowledge of course, symptoms and treatment of the disease is important.
DOI: 10.1055/s-0033-1363687
PubMed: 24633979
Links to Exploration step
pubmed:24633979Le document en format XML
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<series><title level="j">Klinische Padiatrie</title>
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<term>Chromosome Aberrations</term>
<term>Codon, Terminator (genetics)</term>
<term>Fatal Outcome</term>
<term>Female</term>
<term>Genes, Recessive (genetics)</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Hydroxychloroquine (therapeutic use)</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Lung Diseases, Interstitial (drug therapy)</term>
<term>Lung Diseases, Interstitial (genetics)</term>
<term>Macrolides (therapeutic use)</term>
<term>Mutation (genetics)</term>
<term>Respiratory Distress Syndrome, Newborn (drug therapy)</term>
<term>Respiratory Distress Syndrome, Newborn (genetics)</term>
<term>Respiratory Insufficiency (drug therapy)</term>
<term>Respiratory Insufficiency (genetics)</term>
<term>Treatment Failure</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>ATP-Binding Cassette Transporters</term>
<term>Codon, Terminator</term>
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<term>Hydroxychloroquine</term>
<term>Macrolides</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Lung Diseases, Interstitial</term>
<term>Respiratory Distress Syndrome, Newborn</term>
<term>Respiratory Insufficiency</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genes, Recessive</term>
<term>Lung Diseases, Interstitial</term>
<term>Mutation</term>
<term>Respiratory Distress Syndrome, Newborn</term>
<term>Respiratory Insufficiency</term>
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<term>Fatal Outcome</term>
<term>Female</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Infant</term>
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<front><div type="abstract" xml:lang="en">Autosomal recessive ABCA3 (ATP-binding cassette protein A3) gene mutations have been associated with neonatal respiratory distress and pediatric interstitial lung disease. The clinical course of the disease depends on the underlying mutations. Therefore, knowledge of course, symptoms and treatment of the disease is important.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24633979</PMID>
<DateCompleted><Year>2014</Year>
<Month>12</Month>
<Day>01</Day>
</DateCompleted>
<DateRevised><Year>2017</Year>
<Month>12</Month>
<Day>13</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1439-3824</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>226</Volume>
<Issue>2</Issue>
<PubDate><Year>2014</Year>
<Month>Apr</Month>
</PubDate>
</JournalIssue>
<Title>Klinische Padiatrie</Title>
<ISOAbbreviation>Klin Padiatr</ISOAbbreviation>
</Journal>
<ArticleTitle>Neonatal respiratory insufficiency caused by an (homozygous) ABCA3-stop mutation: a systematic evaluation of therapeutic options.</ArticleTitle>
<Pagination><MedlinePgn>53-8</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1055/s-0033-1363687</ELocationID>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Autosomal recessive ABCA3 (ATP-binding cassette protein A3) gene mutations have been associated with neonatal respiratory distress and pediatric interstitial lung disease. The clinical course of the disease depends on the underlying mutations. Therefore, knowledge of course, symptoms and treatment of the disease is important.</AbstractText>
<AbstractText Label="PATIENT AND METHODS" NlmCategory="METHODS">A term newborn suffered from progressive respiratory insufficiency, which led to death at the age of 4.8 months. The girl developed interstitial lung disease. Infections as well as structural and functional disorders of the lung were systematically excluded. A homozygous c.4681C > T (Arg 1561 Stop) mutation of the ABCA3 gene was identified. A literature review of the pathophysiology and treatment options of the disease was done. Therapeutic approaches with corticosteroids, macrolide, and hydroxychloroquine did not improve the clinical course.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">Therapeutic strategies for chronic interstitial lung disease have been used successfully in cases of a mild clinical course in juvenile patients with ABCA3 gene mutation. In our patient with homozygous ABCA3 gene mutation,they were not effective. Lung transplantation remains as a therapeutic option, but because of donor organ shortage and associated morbidity and mortality it is rarely feasible.</AbstractText>
<AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">More experience in the treatment of newborns with ABCA3 gene mutations is needed. Randomized, prospective evaluation of the different therapeutic approaches in a specific registry may improve prognosis and treatment of affected individuals.</AbstractText>
<CopyrightInformation>© Georg Thieme Verlag KG Stuttgart · New York.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Winter</LastName>
<ForeName>J</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Neonatology, Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Essmann</LastName>
<ForeName>S</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Neonatology, Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kidszun</LastName>
<ForeName>A</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Neonatology, Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Aslanidis</LastName>
<ForeName>C</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Institute for Clinical Chemistry and Laboratory Medicine, University Hospital Regensburg, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Griese</LastName>
<ForeName>M</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Pediatric Clinic and Policlinic, Dr. von Hauner Children's Hospital, University Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Poplawska</LastName>
<ForeName>K</ForeName>
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<AffiliationInfo><Affiliation>Pediatric Pulmonology, Children's Hospital of the University Medical Center of the Johannes -Gutenberg University Mainz, Germany.</Affiliation>
</AffiliationInfo>
</Author>
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<Initials>M</Initials>
<AffiliationInfo><Affiliation>Neonatology, Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Schmitz</LastName>
<ForeName>G</ForeName>
<Initials>G</Initials>
<AffiliationInfo><Affiliation>Institute for Clinical Chemistry and Laboratory Medicine, University Hospital Regensburg, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Mildenberger</LastName>
<ForeName>E</ForeName>
<Initials>E</Initials>
<AffiliationInfo><Affiliation>Neonatology, Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz, Germany.</Affiliation>
</AffiliationInfo>
</Author>
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<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
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<MedlineJournalInfo><Country>Germany</Country>
<MedlineTA>Klin Padiatr</MedlineTA>
<NlmUniqueID>0326144</NlmUniqueID>
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<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C441524">ABCA3 protein, human</NameOfSubstance>
</Chemical>
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