Clinical care of children with primary ciliary dyskinesia.
Identifieur interne : 000F95 ( PubMed/Checkpoint ); précédent : 000F94; suivant : 000F96Clinical care of children with primary ciliary dyskinesia.
Auteurs : Jane S. Lucas [Royaume-Uni] ; Mikkel Christian Alanin [Danemark] ; Samuel Collins [Royaume-Uni] ; Amanda Harris [Royaume-Uni] ; Helle Krogh Johansen [Danemark] ; Kim G. Nielsen [Danemark] ; Jean Francois Papon [France] ; Phil Robinson [Australie] ; Woolf T. Walker [Royaume-Uni]Source :
- Expert review of respiratory medicine [ 1747-6356 ] ; 2017.
Abstract
Primary ciliary dyskinesia (PCD) is a rare heterogeneous disorder, usually inherited as an autosomal recessive condition but X-linked inheritance is also described. Abnormal ciliary function in childhood leads to neonatal respiratory distress in term infants, persistent wet cough, bronchiectasis, chronic rhinosinusitis, and hearing impairment; approximately 50% of patients have situs inversus. There is a paucity of evidence for treating PCD, hence consensus guidelines are predominantly influenced by knowledge from cystic fibrosis (CF). Extrapolation of evidence from other diseases is inappropriate since differences in pathophysiology, morbidity and prognosis risk treatment failure and lack of adherence. Areas covered: Review authors searched PubMed and Cochrane databases for publications relating to management of children with PCD. Because of the paucity of data, we emphasise the need for well-designed clinical trials with PCD patients rather than reliance on evidence from other diseases. Expert commentary: The evidence for treatment of PCD is poor, and management is often extrapolated from studies of patients with CF or chronic rhinosinusitis. However, much work is underway to improve the situation and international consortia and networks are conducting well-designed projects to inform the management of children with PCD.
DOI: 10.1080/17476348.2017.1360770
PubMed: 28745925
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Lucas</name><affiliation wicri:level="1"><nlm:affiliation>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton , United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton </wicri:regionArea><wicri:noRegion>Southampton </wicri:noRegion></affiliation></author><author><name sortKey="Alanin, Mikkel Christian" sort="Alanin, Mikkel Christian" uniqKey="Alanin M" first="Mikkel Christian" last="Alanin">Mikkel Christian Alanin</name><affiliation wicri:level="1"><nlm:affiliation>b Department of Otorhinolaryngology - Head and Neck Surgery , University Hospital Rigshospitalet , Copenhagen , Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>b Department of Otorhinolaryngology - Head and Neck Surgery , University Hospital Rigshospitalet , Copenhagen </wicri:regionArea><wicri:noRegion>Copenhagen </wicri:noRegion></affiliation></author><author><name sortKey="Collins, Samuel" sort="Collins, Samuel" uniqKey="Collins S" first="Samuel" last="Collins">Samuel Collins</name><affiliation wicri:level="1"><nlm:affiliation>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton , United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton </wicri:regionArea><wicri:noRegion>Southampton </wicri:noRegion></affiliation></author><author><name sortKey="Harris, Amanda" sort="Harris, Amanda" uniqKey="Harris A" first="Amanda" last="Harris">Amanda Harris</name><affiliation wicri:level="1"><nlm:affiliation>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton , United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton </wicri:regionArea><wicri:noRegion>Southampton </wicri:noRegion></affiliation></author><author><name sortKey="Johansen, Helle Krogh" sort="Johansen, Helle Krogh" uniqKey="Johansen H" first="Helle Krogh" last="Johansen">Helle Krogh Johansen</name><affiliation wicri:level="1"><nlm:affiliation>c Department of Clinical Microbiology, Afsnit 9301 , University Hospital Rigshospitalet , Copenhagen , Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>c Department of Clinical Microbiology, Afsnit 9301 , University Hospital Rigshospitalet , Copenhagen </wicri:regionArea><wicri:noRegion>Copenhagen </wicri:noRegion></affiliation></author><author><name sortKey="Nielsen, Kim G" sort="Nielsen, Kim G" uniqKey="Nielsen K" first="Kim G" last="Nielsen">Kim G. 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Lucas</name><affiliation wicri:level="1"><nlm:affiliation>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton , United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton </wicri:regionArea><wicri:noRegion>Southampton </wicri:noRegion></affiliation></author><author><name sortKey="Alanin, Mikkel Christian" sort="Alanin, Mikkel Christian" uniqKey="Alanin M" first="Mikkel Christian" last="Alanin">Mikkel Christian Alanin</name><affiliation wicri:level="1"><nlm:affiliation>b Department of Otorhinolaryngology - Head and Neck Surgery , University Hospital Rigshospitalet , Copenhagen , Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>b Department of Otorhinolaryngology - Head and Neck Surgery , University Hospital Rigshospitalet , Copenhagen </wicri:regionArea><wicri:noRegion>Copenhagen </wicri:noRegion></affiliation></author><author><name sortKey="Collins, Samuel" sort="Collins, Samuel" uniqKey="Collins S" first="Samuel" last="Collins">Samuel Collins</name><affiliation wicri:level="1"><nlm:affiliation>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton , United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton </wicri:regionArea><wicri:noRegion>Southampton </wicri:noRegion></affiliation></author><author><name sortKey="Harris, Amanda" sort="Harris, Amanda" uniqKey="Harris A" first="Amanda" last="Harris">Amanda Harris</name><affiliation wicri:level="1"><nlm:affiliation>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton , United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton </wicri:regionArea><wicri:noRegion>Southampton </wicri:noRegion></affiliation></author><author><name sortKey="Johansen, Helle Krogh" sort="Johansen, Helle Krogh" uniqKey="Johansen H" first="Helle Krogh" last="Johansen">Helle Krogh Johansen</name><affiliation wicri:level="1"><nlm:affiliation>c Department of Clinical Microbiology, Afsnit 9301 , University Hospital Rigshospitalet , Copenhagen , Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>c Department of Clinical Microbiology, Afsnit 9301 , University Hospital Rigshospitalet , Copenhagen </wicri:regionArea><wicri:noRegion>Copenhagen </wicri:noRegion></affiliation></author><author><name sortKey="Nielsen, Kim G" sort="Nielsen, Kim G" uniqKey="Nielsen K" first="Kim G" last="Nielsen">Kim G. Nielsen</name><affiliation wicri:level="1"><nlm:affiliation>e Danish PCD & chILD Centre, CF Centre Copenhagen Paediatric Pulmonary Service, ERN Accredited for PCD and CF Health Care, Department of Paediatrics and Adolescent Medicine , Copenhagen University Hospital, Rigshospitalet , Copenhagen , Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>e Danish PCD & chILD Centre, CF Centre Copenhagen Paediatric Pulmonary Service, ERN Accredited for PCD and CF Health Care, Department of Paediatrics and Adolescent Medicine , Copenhagen University Hospital, Rigshospitalet , Copenhagen </wicri:regionArea><wicri:noRegion>Copenhagen </wicri:noRegion></affiliation></author><author><name sortKey="Papon, Jean Francois" sort="Papon, Jean Francois" uniqKey="Papon J" first="Jean Francois" last="Papon">Jean Francois Papon</name><affiliation wicri:level="1"><nlm:affiliation>f APHP, Bicetre University Hospital , ENT Department, Universite Paris-Sud, Faculté de Médecine , Le Kremlin-Bicetre , France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>f APHP, Bicetre University Hospital , ENT Department, Universite Paris-Sud, Faculté de Médecine , Le Kremlin-Bicetre </wicri:regionArea><wicri:noRegion>Le Kremlin-Bicetre </wicri:noRegion><wicri:noRegion>Le Kremlin-Bicetre </wicri:noRegion></affiliation></author><author><name sortKey="Robinson, Phil" sort="Robinson, Phil" uniqKey="Robinson P" first="Phil" last="Robinson">Phil Robinson</name><affiliation wicri:level="1"><nlm:affiliation>g PCD Service, Department of Respiratory and Sleep Medicine , Royal Children's Hospital , Melbourne , Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>g PCD Service, Department of Respiratory and Sleep Medicine , Royal Children's Hospital , Melbourne </wicri:regionArea><wicri:noRegion>Melbourne </wicri:noRegion></affiliation></author><author><name sortKey="Walker, Woolf T" sort="Walker, Woolf T" uniqKey="Walker W" first="Woolf T" last="Walker">Woolf T. Walker</name><affiliation wicri:level="1"><nlm:affiliation>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton , United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton </wicri:regionArea><wicri:noRegion>Southampton </wicri:noRegion></affiliation></author></analytic><series><title level="j">Expert review of respiratory medicine</title><idno type="eISSN">1747-6356</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Primary ciliary dyskinesia (PCD) is a rare heterogeneous disorder, usually inherited as an autosomal recessive condition but X-linked inheritance is also described. Abnormal ciliary function in childhood leads to neonatal respiratory distress in term infants, persistent wet cough, bronchiectasis, chronic rhinosinusitis, and hearing impairment; approximately 50% of patients have situs inversus. There is a paucity of evidence for treating PCD, hence consensus guidelines are predominantly influenced by knowledge from cystic fibrosis (CF). Extrapolation of evidence from other diseases is inappropriate since differences in pathophysiology, morbidity and prognosis risk treatment failure and lack of adherence. Areas covered: Review authors searched PubMed and Cochrane databases for publications relating to management of children with PCD. Because of the paucity of data, we emphasise the need for well-designed clinical trials with PCD patients rather than reliance on evidence from other diseases. Expert commentary: The evidence for treatment of PCD is poor, and management is often extrapolated from studies of patients with CF or chronic rhinosinusitis. However, much work is underway to improve the situation and international consortia and networks are conducting well-designed projects to inform the management of children with PCD.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">28745925</PMID><DateCreated><Year>2017</Year><Month>07</Month><Day>26</Day></DateCreated><DateRevised><Year>2017</Year><Month>09</Month><Day>14</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1747-6356</ISSN><JournalIssue CitedMedium="Internet"><Volume>11</Volume><Issue>10</Issue><PubDate><Year>2017</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Expert review of respiratory medicine</Title><ISOAbbreviation>Expert Rev Respir Med</ISOAbbreviation></Journal><ArticleTitle>Clinical care of children with primary ciliary dyskinesia.</ArticleTitle><Pagination><MedlinePgn>779-790</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1080/17476348.2017.1360770</ELocationID><Abstract><AbstractText Label="INTRODUCTION" NlmCategory="BACKGROUND">Primary ciliary dyskinesia (PCD) is a rare heterogeneous disorder, usually inherited as an autosomal recessive condition but X-linked inheritance is also described. Abnormal ciliary function in childhood leads to neonatal respiratory distress in term infants, persistent wet cough, bronchiectasis, chronic rhinosinusitis, and hearing impairment; approximately 50% of patients have situs inversus. There is a paucity of evidence for treating PCD, hence consensus guidelines are predominantly influenced by knowledge from cystic fibrosis (CF). Extrapolation of evidence from other diseases is inappropriate since differences in pathophysiology, morbidity and prognosis risk treatment failure and lack of adherence. Areas covered: Review authors searched PubMed and Cochrane databases for publications relating to management of children with PCD. Because of the paucity of data, we emphasise the need for well-designed clinical trials with PCD patients rather than reliance on evidence from other diseases. Expert commentary: The evidence for treatment of PCD is poor, and management is often extrapolated from studies of patients with CF or chronic rhinosinusitis. However, much work is underway to improve the situation and international consortia and networks are conducting well-designed projects to inform the management of children with PCD.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lucas</LastName><ForeName>Jane S</ForeName><Initials>JS</Initials><AffiliationInfo><Affiliation>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton , United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Alanin</LastName><ForeName>Mikkel Christian</ForeName><Initials>MC</Initials><AffiliationInfo><Affiliation>b Department of Otorhinolaryngology - Head and Neck Surgery , University Hospital Rigshospitalet , Copenhagen , Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Collins</LastName><ForeName>Samuel</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton , United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Harris</LastName><ForeName>Amanda</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton , United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Johansen</LastName><ForeName>Helle Krogh</ForeName><Initials>HK</Initials><AffiliationInfo><Affiliation>c Department of Clinical Microbiology, Afsnit 9301 , University Hospital Rigshospitalet , Copenhagen , Denmark.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>d Department of Clinical Medicine, Faculty of Health and Medical Sciences , University of Copenhagen , Copenhagen , Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nielsen</LastName><ForeName>Kim G</ForeName><Initials>KG</Initials><AffiliationInfo><Affiliation>e Danish PCD & chILD Centre, CF Centre Copenhagen Paediatric Pulmonary Service, ERN Accredited for PCD and CF Health Care, Department of Paediatrics and Adolescent Medicine , Copenhagen University Hospital, Rigshospitalet , Copenhagen , Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Papon</LastName><ForeName>Jean Francois</ForeName><Initials>JF</Initials><AffiliationInfo><Affiliation>f APHP, Bicetre University Hospital , ENT Department, Universite Paris-Sud, Faculté de Médecine , Le Kremlin-Bicetre , France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Robinson</LastName><ForeName>Phil</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>g PCD Service, Department of Respiratory and Sleep Medicine , Royal Children's Hospital , Melbourne , Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Walker</LastName><ForeName>Woolf T</ForeName><Initials>WT</Initials><AffiliationInfo><Affiliation>a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton , United Kingdom.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>08</Month><Day>02</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Expert Rev Respir Med</MedlineTA><NlmUniqueID>101278196</NlmUniqueID><ISSNLinking>1747-6348</ISSNLinking></MedlineJournalInfo><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">PCD</Keyword><Keyword MajorTopicYN="N">Primary ciliary dyskinesia</Keyword><Keyword MajorTopicYN="N">kartagener</Keyword><Keyword MajorTopicYN="N">management</Keyword><Keyword MajorTopicYN="N">microbiology</Keyword><Keyword MajorTopicYN="N">rare diseases</Keyword><Keyword MajorTopicYN="N">review</Keyword><Keyword MajorTopicYN="N">therapy</Keyword><Keyword MajorTopicYN="N">transition</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>7</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>7</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>7</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28745925</ArticleId><ArticleId IdType="doi">10.1080/17476348.2017.1360770</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Australie</li><li>Danemark</li><li>France</li><li>Royaume-Uni</li></country></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Lucas, Jane S" sort="Lucas, Jane S" uniqKey="Lucas J" first="Jane S" last="Lucas">Jane S. Lucas</name></noRegion><name sortKey="Collins, Samuel" sort="Collins, Samuel" uniqKey="Collins S" first="Samuel" last="Collins">Samuel Collins</name><name sortKey="Harris, Amanda" sort="Harris, Amanda" uniqKey="Harris A" first="Amanda" last="Harris">Amanda Harris</name><name sortKey="Walker, Woolf T" sort="Walker, Woolf T" uniqKey="Walker W" first="Woolf T" last="Walker">Woolf T. Walker</name></country><country name="Danemark"><noRegion><name sortKey="Alanin, Mikkel Christian" sort="Alanin, Mikkel Christian" uniqKey="Alanin M" first="Mikkel Christian" last="Alanin">Mikkel Christian Alanin</name></noRegion><name sortKey="Johansen, Helle Krogh" sort="Johansen, Helle Krogh" uniqKey="Johansen H" first="Helle Krogh" last="Johansen">Helle Krogh Johansen</name><name sortKey="Nielsen, Kim G" sort="Nielsen, Kim G" uniqKey="Nielsen K" first="Kim G" last="Nielsen">Kim G. Nielsen</name></country><country name="France"><noRegion><name sortKey="Papon, Jean Francois" sort="Papon, Jean Francois" uniqKey="Papon J" first="Jean Francois" last="Papon">Jean Francois Papon</name></noRegion></country><country name="Australie"><noRegion><name sortKey="Robinson, Phil" sort="Robinson, Phil" uniqKey="Robinson P" first="Phil" last="Robinson">Phil Robinson</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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