Unusual long survival despite severe lung disease of a child with biallelic loss of function mutations in ABCA-3.
Identifieur interne : 000112 ( PubMed/Corpus ); précédent : 000111; suivant : 000113Unusual long survival despite severe lung disease of a child with biallelic loss of function mutations in ABCA-3.
Auteurs : P. El Boustany ; R. Epaud ; C. Grosse ; F. Barriere ; E. Grimont-Rolland ; A. Carsin ; J C DubusSource :
- Respiratory medicine case reports [ 2213-0071 ] ; 2018.
Abstract
Homozygous or compound heterozygous for frameshift or nonsense mutations in the ATP-binding cassette transporter A3 (ABCA3) is associated with neonatal respiratory failure and death within the first year of life without lung transplantation. We report the case of a newborn baby girl who developed severe respiratory distress soon after birth. She was diagnosed with compound heterozygous frameshift mutation of the ABCA3 gene. Despite extensive treatment (intravenous corticosteroids pulse therapy, oral corticosteroids, azithromycin, and hydroxychloroquine), she developed chronic respiratory failure. As the parents refused cardio-pulmonary transplantation and couldn't resolve to an accompaniment of end of life, a tracheostomy was performed resulting in continuous mechanical ventilation. A neurodevelopmental delay and an overall muscular dystrophy were noted. At the age of 5 years, after 2 episodes of pneumothorax, the patient died from severe respiratory failure. To our knowledge, this was the first case of a child with compound heterozygous frameshift mutation who posed such an ethical dilemma with a patient surviving till the age of five years.
DOI: 10.1016/j.rmcr.2018.03.004
PubMed: 29719811
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Grosse</name><affiliation><nlm:affiliation>Service de néonatologie, hôpital de la Conception, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Barriere, F" sort="Barriere, F" uniqKey="Barriere F" first="F" last="Barriere">F. Barriere</name><affiliation><nlm:affiliation>Unité de réanimation pédiatrique, Hôpital de La Timone Enfants, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Grimont Rolland, E" sort="Grimont Rolland, E" uniqKey="Grimont Rolland E" first="E" last="Grimont-Rolland">E. Grimont-Rolland</name><affiliation><nlm:affiliation>Hôpital San Salvadour, Assistance Publique Hôpitaux de Paris, Hyères, France.</nlm:affiliation></affiliation></author><author><name sortKey="Carsin, A" sort="Carsin, A" uniqKey="Carsin A" first="A" last="Carsin">A. Carsin</name><affiliation><nlm:affiliation>Unité de pneumologie pédiatrique, Hôpital de La Timone Enfants, Aix-Marseille Université, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Dubus, J C" sort="Dubus, J C" uniqKey="Dubus J" first="J C" last="Dubus">J C Dubus</name><affiliation><nlm:affiliation>Unité de pneumologie pédiatrique, Hôpital de La Timone Enfants, Aix-Marseille Université, Marseille, France.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2018">2018</date><idno type="RBID">pubmed:29719811</idno><idno type="pmid">29719811</idno><idno type="doi">10.1016/j.rmcr.2018.03.004</idno><idno type="wicri:Area/PubMed/Corpus">000112</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000112</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Unusual long survival despite severe lung disease of a child with biallelic loss of function mutations in ABCA-3.</title><author><name sortKey="El Boustany, P" sort="El Boustany, P" uniqKey="El Boustany P" first="P" last="El Boustany">P. El Boustany</name><affiliation><nlm:affiliation>Unité de pneumologie pédiatrique, Hôpital de La Timone Enfants, Aix-Marseille Université, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Epaud, R" sort="Epaud, R" uniqKey="Epaud R" first="R" last="Epaud">R. Epaud</name><affiliation><nlm:affiliation>Centre Hospitalier Intercommunal Créteil; Inserm, U955, Equipe 5, Université Paris-Est, Faculté de Médecine, Créteil, France.</nlm:affiliation></affiliation></author><author><name sortKey="Grosse, C" sort="Grosse, C" uniqKey="Grosse C" first="C" last="Grosse">C. Grosse</name><affiliation><nlm:affiliation>Service de néonatologie, hôpital de la Conception, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Barriere, F" sort="Barriere, F" uniqKey="Barriere F" first="F" last="Barriere">F. Barriere</name><affiliation><nlm:affiliation>Unité de réanimation pédiatrique, Hôpital de La Timone Enfants, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Grimont Rolland, E" sort="Grimont Rolland, E" uniqKey="Grimont Rolland E" first="E" last="Grimont-Rolland">E. Grimont-Rolland</name><affiliation><nlm:affiliation>Hôpital San Salvadour, Assistance Publique Hôpitaux de Paris, Hyères, France.</nlm:affiliation></affiliation></author><author><name sortKey="Carsin, A" sort="Carsin, A" uniqKey="Carsin A" first="A" last="Carsin">A. Carsin</name><affiliation><nlm:affiliation>Unité de pneumologie pédiatrique, Hôpital de La Timone Enfants, Aix-Marseille Université, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Dubus, J C" sort="Dubus, J C" uniqKey="Dubus J" first="J C" last="Dubus">J C Dubus</name><affiliation><nlm:affiliation>Unité de pneumologie pédiatrique, Hôpital de La Timone Enfants, Aix-Marseille Université, Marseille, France.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Respiratory medicine case reports</title><idno type="ISSN">2213-0071</idno><imprint><date when="2018" type="published">2018</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Homozygous or compound heterozygous for frameshift or nonsense mutations in the ATP-binding cassette transporter A3 (ABCA3) is associated with neonatal respiratory failure and death within the first year of life without lung transplantation. We report the case of a newborn baby girl who developed severe respiratory distress soon after birth. She was diagnosed with compound heterozygous frameshift mutation of the ABCA3 gene. Despite extensive treatment (intravenous corticosteroids pulse therapy, oral corticosteroids, azithromycin, and hydroxychloroquine), she developed chronic respiratory failure. As the parents refused cardio-pulmonary transplantation and couldn't resolve to an accompaniment of end of life, a tracheostomy was performed resulting in continuous mechanical ventilation. A neurodevelopmental delay and an overall muscular dystrophy were noted. At the age of 5 years, after 2 episodes of pneumothorax, the patient died from severe respiratory failure. To our knowledge, this was the first case of a child with compound heterozygous frameshift mutation who posed such an ethical dilemma with a patient surviving till the age of five years.</div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">29719811</PMID><DateRevised><Year>2019</Year><Month>11</Month><Day>20</Day></DateRevised><Article PubModel="Electronic-eCollection"><Journal><ISSN IssnType="Print">2213-0071</ISSN><JournalIssue CitedMedium="Print"><Volume>23</Volume><PubDate><Year>2018</Year></PubDate></JournalIssue><Title>Respiratory medicine case reports</Title><ISOAbbreviation>Respir Med Case Rep</ISOAbbreviation></Journal><ArticleTitle>Unusual long survival despite severe lung disease of a child with biallelic loss of function mutations in ABCA-3.</ArticleTitle><Pagination><MedlinePgn>173-175</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.rmcr.2018.03.004</ELocationID><Abstract><AbstractText>Homozygous or compound heterozygous for frameshift or nonsense mutations in the ATP-binding cassette transporter A3 (ABCA3) is associated with neonatal respiratory failure and death within the first year of life without lung transplantation. We report the case of a newborn baby girl who developed severe respiratory distress soon after birth. She was diagnosed with compound heterozygous frameshift mutation of the ABCA3 gene. Despite extensive treatment (intravenous corticosteroids pulse therapy, oral corticosteroids, azithromycin, and hydroxychloroquine), she developed chronic respiratory failure. As the parents refused cardio-pulmonary transplantation and couldn't resolve to an accompaniment of end of life, a tracheostomy was performed resulting in continuous mechanical ventilation. A neurodevelopmental delay and an overall muscular dystrophy were noted. At the age of 5 years, after 2 episodes of pneumothorax, the patient died from severe respiratory failure. To our knowledge, this was the first case of a child with compound heterozygous frameshift mutation who posed such an ethical dilemma with a patient surviving till the age of five years.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>El Boustany</LastName><ForeName>P</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Unité de pneumologie pédiatrique, Hôpital de La Timone Enfants, Aix-Marseille Université, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Epaud</LastName><ForeName>R</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Centre Hospitalier Intercommunal Créteil; Inserm, U955, Equipe 5, Université Paris-Est, Faculté de Médecine, Créteil, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Grosse</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Service de néonatologie, hôpital de la Conception, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Barriere</LastName><ForeName>F</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Unité de réanimation pédiatrique, Hôpital de La Timone Enfants, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Grimont-Rolland</LastName><ForeName>E</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Hôpital San Salvadour, Assistance Publique Hôpitaux de Paris, Hyères, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Carsin</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Unité de pneumologie pédiatrique, Hôpital de La Timone Enfants, Aix-Marseille Université, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dubus</LastName><ForeName>J C</ForeName><Initials>JC</Initials><AffiliationInfo><Affiliation>Unité de pneumologie pédiatrique, Hôpital de La Timone Enfants, Aix-Marseille Université, Marseille, France.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2018</Year><Month>03</Month><Day>06</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Respir Med Case Rep</MedlineTA><NlmUniqueID>101604463</NlmUniqueID><ISSNLinking>2213-0071</ISSNLinking></MedlineJournalInfo><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">ABCA3 deficiency</Keyword><Keyword MajorTopicYN="N">ABCA3, Adenosine triphosphate-binding cassette transporter subfamily A member 3</Keyword><Keyword MajorTopicYN="N">Compound heterozygous frameshift mutation</Keyword><Keyword MajorTopicYN="N">Ethical dilemma</Keyword><Keyword MajorTopicYN="N">Mechanical ventilation</Keyword><Keyword MajorTopicYN="N">Neonatal respiratory failure</Keyword><Keyword 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