European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.
Identifieur interne : 000C83 ( Main/Exploration ); précédent : 000C82; suivant : 000C84European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.
Auteurs : Jane S. Lucas [Royaume-Uni] ; Angelo Barbato [Italie] ; Samuel A. Collins [Royaume-Uni] ; Myrofora Goutaki [Suisse] ; Laura Behan [Royaume-Uni] ; Daan Caudri [Australie] ; Sharon Dell [Canada] ; Ernst Eber [Autriche] ; Estelle Escudier [France] ; Robert A. Hirst [Royaume-Uni] ; Claire Hogg [Royaume-Uni] ; Mark Jorissen [Belgique] ; Philipp Latzin [Suisse] ; Marie Legendre [France] ; Margaret W. Leigh [États-Unis] ; Fabio Midulla [Italie] ; Kim G. Nielsen [Danemark] ; Heymut Omran ; Jean-Francois Papon [France] ; Petr Pohunek [République tchèque] ; Beatrice Redfern [Royaume-Uni] ; David Rigau [Espagne] ; Bernhard Rindlisbacher [Suisse] ; Francesca Santamaria [Italie] ; Amelia Shoemark [Royaume-Uni] ; Deborah Snijders [Italie] ; Thomy Tonia [Suisse] ; Andrea Titieni ; Woolf T. Walker [Royaume-Uni] ; Claudius Werner ; Andrew Bush [Royaume-Uni] ; Claudia E. Kuehni [Suisse]Source :
- The European respiratory journal [ 1399-3003 ] ; 2017.
Abstract
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. In many cases, however, the diagnosis remains difficult despite the array of sophisticated diagnostic tests. There is no "gold standard" reference test. Hence, a Task Force supported by the European Respiratory Society has developed this guideline to provide evidence-based recommendations on diagnostic testing, especially in light of new developments in such tests, and the need for robust diagnoses of patients who might enter randomised controlled trials of treatments. The guideline is based on pre-defined questions relevant for clinical care, a systematic review of the literature, and assessment of the evidence using the GRADE (Grading of Recommendations, Assessment, Development and Evaluation) approach. It focuses on clinical presentation, nasal nitric oxide, analysis of ciliary beat frequency and pattern by high-speed video-microscopy analysis, transmission electron microscopy, genotyping and immunofluorescence. It then used a modified Delphi survey to develop an algorithm for the use of diagnostic tests to definitively confirm and exclude the diagnosis of primary ciliary dyskinesia; and to provide advice when the diagnosis was not conclusive. Finally, this guideline proposes a set of quality criteria for future research on the validity of diagnostic methods for primary ciliary dyskinesia.
DOI: 10.1183/13993003.01090-2016
PubMed: 27836958
Affiliations:
- Australie, Autriche, Belgique, Canada, Danemark, Espagne, France, Italie, Royaume-Uni, République tchèque, Suisse, États-Unis
- Angleterre, Bohême centrale, Canton de Berne, Caroline du Nord, Catalogne, Grand Londres, Hovedstaden, Latium, Île-de-France
- Barcelone, Berne, Chapel Hill (Caroline du Nord), Copenhague, Londres, Paris, Prague, Rome
- Université de Berne, Université de Caroline du Nord à Chapel Hill
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Kuehni</name><affiliation wicri:level="4"><nlm:affiliation>Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Social and Preventive Medicine, University of Bern, Bern</wicri:regionArea><placeName><settlement type="city">Berne</settlement><region type="région" nuts="3">Canton de Berne</region><settlement type="city">Berne</settlement></placeName><orgName type="university">Université de Berne</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:27836958</idno><idno type="pmid">27836958</idno><idno type="doi">10.1183/13993003.01090-2016</idno><idno type="wicri:Area/PubMed/Corpus">001355</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001355</idno><idno type="wicri:Area/PubMed/Curation">001333</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001333</idno><idno type="wicri:Area/PubMed/Checkpoint">001333</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001333</idno><idno type="wicri:Area/Ncbi/Merge">003E54</idno><idno type="wicri:Area/Ncbi/Curation">003E54</idno><idno type="wicri:Area/Ncbi/Checkpoint">003E54</idno><idno type="wicri:Area/Main/Merge">000C78</idno><idno type="wicri:Area/Main/Curation">000C83</idno><idno type="wicri:Area/Main/Exploration">000C83</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.</title><author><name sortKey="Lucas, Jane S" sort="Lucas, Jane S" uniqKey="Lucas J" first="Jane S" last="Lucas">Jane S. Lucas</name><affiliation wicri:level="1"><nlm:affiliation>Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK jlucas1@soton.ac.uk.</nlm:affiliation><country wicri:rule="url">Royaume-Uni</country><wicri:regionArea>Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton</wicri:regionArea><wicri:noRegion>Southampton</wicri:noRegion></affiliation></author><author><name sortKey="Barbato, Angelo" sort="Barbato, Angelo" uniqKey="Barbato A" first="Angelo" last="Barbato">Angelo Barbato</name><affiliation wicri:level="1"><nlm:affiliation>Primary Ciliary Dyskinesia Centre, Dept of Woman and Child Health (SDB), University of Padova, Padova, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Primary Ciliary Dyskinesia Centre, Dept of Woman and Child Health (SDB), University of Padova, Padova</wicri:regionArea><wicri:noRegion>Padova</wicri:noRegion></affiliation></author><author><name sortKey="Collins, Samuel A" sort="Collins, Samuel A" uniqKey="Collins S" first="Samuel A" last="Collins">Samuel A. Collins</name><affiliation wicri:level="1"><nlm:affiliation>Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton</wicri:regionArea><wicri:noRegion>Southampton</wicri:noRegion></affiliation></author><author><name sortKey="Goutaki, Myrofora" sort="Goutaki, Myrofora" uniqKey="Goutaki M" first="Myrofora" last="Goutaki">Myrofora Goutaki</name><affiliation wicri:level="4"><nlm:affiliation>Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Social and Preventive Medicine, University of Bern, Bern</wicri:regionArea><placeName><settlement type="city">Berne</settlement><region type="région" nuts="3">Canton de Berne</region><settlement type="city">Berne</settlement></placeName><orgName type="university">Université de Berne</orgName></affiliation></author><author><name sortKey="Behan, Laura" sort="Behan, Laura" uniqKey="Behan L" first="Laura" last="Behan">Laura Behan</name><affiliation wicri:level="1"><nlm:affiliation>Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton</wicri:regionArea><wicri:noRegion>Southampton</wicri:noRegion></affiliation></author><author><name sortKey="Caudri, Daan" sort="Caudri, Daan" uniqKey="Caudri D" first="Daan" last="Caudri">Daan Caudri</name><affiliation wicri:level="1"><nlm:affiliation>Telethon Kids Institute, The University of Western Australia, Subiaco, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Telethon Kids Institute, The University of Western Australia, Subiaco</wicri:regionArea><wicri:noRegion>Subiaco</wicri:noRegion></affiliation></author><author><name sortKey="Dell, Sharon" sort="Dell, Sharon" uniqKey="Dell S" first="Sharon" last="Dell">Sharon Dell</name><affiliation wicri:level="1"><nlm:affiliation>Division of Respiratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Respiratory Medicine, The Hospital for Sick Children, Toronto, ON</wicri:regionArea><wicri:noRegion>ON</wicri:noRegion></affiliation></author><author><name sortKey="Eber, Ernst" sort="Eber, Ernst" uniqKey="Eber E" first="Ernst" last="Eber">Ernst Eber</name><affiliation wicri:level="1"><nlm:affiliation>Division of Paediatric Pulmonology and Allergology, Dept of Paediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Division of Paediatric Pulmonology and Allergology, Dept of Paediatrics and Adolescent Medicine, Medical University of Graz, Graz</wicri:regionArea><wicri:noRegion>Graz</wicri:noRegion></affiliation></author><author><name sortKey="Escudier, Estelle" sort="Escudier, Estelle" uniqKey="Escudier E" first="Estelle" last="Escudier">Estelle Escudier</name><affiliation wicri:level="3"><nlm:affiliation>Service de Génétique et Embryologie Médicales, Centre de Référence des Maladies Respiratoires Rares, Hôpital Armand Trousseau, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique et Embryologie Médicales, Centre de Référence des Maladies Respiratoires Rares, Hôpital Armand Trousseau, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Hirst, Robert A" sort="Hirst, Robert A" uniqKey="Hirst R" first="Robert A" last="Hirst">Robert A. Hirst</name><affiliation wicri:level="1"><nlm:affiliation>Centre for PCD Diagnosis and Research, Dept of Infection, Immunity and Inflammation, University of Leicester, Leicester Royal Infirmary, Leicester, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for PCD Diagnosis and Research, Dept of Infection, Immunity and Inflammation, University of Leicester, Leicester Royal Infirmary, Leicester</wicri:regionArea><wicri:noRegion>Leicester</wicri:noRegion></affiliation></author><author><name sortKey="Hogg, Claire" sort="Hogg, Claire" uniqKey="Hogg C" first="Claire" last="Hogg">Claire Hogg</name><affiliation wicri:level="3"><nlm:affiliation>Depts of Paediatrics and Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Depts of Paediatrics and Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Jorissen, Mark" sort="Jorissen, Mark" uniqKey="Jorissen M" first="Mark" last="Jorissen">Mark Jorissen</name><affiliation wicri:level="1"><nlm:affiliation>ENT Dept, University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>ENT Dept, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Latzin, Philipp" sort="Latzin, Philipp" uniqKey="Latzin P" first="Philipp" last="Latzin">Philipp Latzin</name><affiliation wicri:level="3"><nlm:affiliation>Dept of Paediatrics, Inselspital, University Hospital of Bern, University of Bern, Bern, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Dept of Paediatrics, Inselspital, University Hospital of Bern, University of Bern, Bern</wicri:regionArea><placeName><settlement type="city">Berne</settlement><region type="région" nuts="3">Canton de Berne</region></placeName></affiliation></author><author><name sortKey="Legendre, Marie" sort="Legendre, Marie" uniqKey="Legendre M" first="Marie" last="Legendre">Marie Legendre</name><affiliation wicri:level="3"><nlm:affiliation>Service de Génétique et Embryologie Médicales, Centre de Référence des Maladies Respiratoires Rares, Hôpital Armand Trousseau, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique et Embryologie Médicales, Centre de Référence des Maladies Respiratoires Rares, Hôpital Armand Trousseau, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Leigh, Margaret W" sort="Leigh, Margaret W" uniqKey="Leigh M" first="Margaret W" last="Leigh">Margaret W. Leigh</name><affiliation wicri:level="4"><nlm:affiliation>University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of North Carolina at Chapel Hill, Chapel Hill, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region><settlement type="city">Chapel Hill (Caroline du Nord)</settlement></placeName><orgName type="university">Université de Caroline du Nord à Chapel Hill</orgName></affiliation></author><author><name sortKey="Midulla, Fabio" sort="Midulla, Fabio" uniqKey="Midulla F" first="Fabio" last="Midulla">Fabio Midulla</name><affiliation wicri:level="3"><nlm:affiliation>Paediatric Dept, Sapienza University of Rome, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Paediatric Dept, Sapienza University of Rome, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></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="3"><nlm:affiliation>Danish PCD & chILD Centre, CF Centre Copenhagen, Paediatric Pulmonary Service, Dept of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish PCD & chILD Centre, CF Centre Copenhagen, Paediatric Pulmonary Service, Dept of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Omran, Heymut" sort="Omran, Heymut" uniqKey="Omran H" first="Heymut" last="Omran">Heymut Omran</name><affiliation><nlm:affiliation>Dept of Pediatrics, University Hospital Muenster, Münster Germany.</nlm:affiliation><wicri:noCountry code="subField">Münster Germany</wicri:noCountry></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>AP-HP, Hôpital Kremlin-Bicetre, service d'ORL et de chirurgie cervico-faciale, Le Kremlin-Bicetre, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Hôpital Kremlin-Bicetre, service d'ORL et de chirurgie cervico-faciale, Le Kremlin-Bicetre</wicri:regionArea><wicri:noRegion>Le Kremlin-Bicetre</wicri:noRegion><wicri:noRegion>Le Kremlin-Bicetre</wicri:noRegion></affiliation></author><author><name sortKey="Pohunek, Petr" sort="Pohunek, Petr" uniqKey="Pohunek P" first="Petr" last="Pohunek">Petr Pohunek</name><affiliation wicri:level="3"><nlm:affiliation>Paediatric Dept, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.</nlm:affiliation><country xml:lang="fr">République tchèque</country><wicri:regionArea>Paediatric Dept, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Redfern, Beatrice" sort="Redfern, Beatrice" uniqKey="Redfern B" first="Beatrice" last="Redfern">Beatrice Redfern</name><affiliation wicri:level="1"><nlm:affiliation>PCD Family Support Group, Milton Keynes, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>PCD Family Support Group, Milton Keynes</wicri:regionArea><wicri:noRegion>Milton Keynes</wicri:noRegion></affiliation></author><author><name sortKey="Rigau, David" sort="Rigau, David" uniqKey="Rigau D" first="David" last="Rigau">David Rigau</name><affiliation wicri:level="3"><nlm:affiliation>Iberoamerican Cochrane Center, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Iberoamerican Cochrane Center, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Rindlisbacher, Bernhard" sort="Rindlisbacher, Bernhard" uniqKey="Rindlisbacher B" first="Bernhard" last="Rindlisbacher">Bernhard Rindlisbacher</name><affiliation wicri:level="1"><nlm:affiliation>Kartagener Syndrom und Primäre Ciliäre Dyskinesie e. V., Steffisburg, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Kartagener Syndrom und Primäre Ciliäre Dyskinesie e. V., Steffisburg</wicri:regionArea><wicri:noRegion>Steffisburg</wicri:noRegion></affiliation></author><author><name sortKey="Santamaria, Francesca" sort="Santamaria, Francesca" uniqKey="Santamaria F" first="Francesca" last="Santamaria">Francesca Santamaria</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Pulmonology, Dept of Translational Medical Sciences, Federico II University, Azienda Ospedaliera Universitaria Federico II, Naples, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Pulmonology, Dept of Translational Medical Sciences, Federico II University, Azienda Ospedaliera Universitaria Federico II, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Shoemark, Amelia" sort="Shoemark, Amelia" uniqKey="Shoemark A" first="Amelia" last="Shoemark">Amelia Shoemark</name><affiliation wicri:level="3"><nlm:affiliation>Depts of Paediatrics and Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Depts of Paediatrics and Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Snijders, Deborah" sort="Snijders, Deborah" uniqKey="Snijders D" first="Deborah" last="Snijders">Deborah Snijders</name><affiliation wicri:level="1"><nlm:affiliation>Primary Ciliary Dyskinesia Centre, Dept of Woman and Child Health (SDB), University of Padova, Padova, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Primary Ciliary Dyskinesia Centre, Dept of Woman and Child Health (SDB), University of Padova, Padova</wicri:regionArea><wicri:noRegion>Padova</wicri:noRegion></affiliation></author><author><name sortKey="Tonia, Thomy" sort="Tonia, Thomy" uniqKey="Tonia T" first="Thomy" last="Tonia">Thomy Tonia</name><affiliation wicri:level="4"><nlm:affiliation>Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Social and Preventive Medicine, University of Bern, Bern</wicri:regionArea><placeName><settlement type="city">Berne</settlement><region type="région" nuts="3">Canton de Berne</region><settlement type="city">Berne</settlement></placeName><orgName type="university">Université de Berne</orgName></affiliation></author><author><name sortKey="Titieni, Andrea" sort="Titieni, Andrea" uniqKey="Titieni A" first="Andrea" last="Titieni">Andrea Titieni</name><affiliation><nlm:affiliation>Dept of Pediatrics, University Hospital Muenster, Münster Germany.</nlm:affiliation><wicri:noCountry code="subField">Münster Germany</wicri:noCountry></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>Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton</wicri:regionArea><wicri:noRegion>Southampton</wicri:noRegion></affiliation></author><author><name sortKey="Werner, Claudius" sort="Werner, Claudius" uniqKey="Werner C" first="Claudius" last="Werner">Claudius Werner</name><affiliation><nlm:affiliation>Dept of Pediatrics, University Hospital Muenster, Münster Germany.</nlm:affiliation><wicri:noCountry code="subField">Münster Germany</wicri:noCountry></affiliation></author><author><name sortKey="Bush, Andrew" sort="Bush, Andrew" uniqKey="Bush A" first="Andrew" last="Bush">Andrew Bush</name><affiliation wicri:level="3"><nlm:affiliation>Depts of Paediatrics and Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Depts of Paediatrics and Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Kuehni, Claudia E" sort="Kuehni, Claudia E" uniqKey="Kuehni C" first="Claudia E" last="Kuehni">Claudia E. Kuehni</name><affiliation wicri:level="4"><nlm:affiliation>Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Social and Preventive Medicine, University of Bern, Bern</wicri:regionArea><placeName><settlement type="city">Berne</settlement><region type="région" nuts="3">Canton de Berne</region><settlement type="city">Berne</settlement></placeName><orgName type="university">Université de Berne</orgName></affiliation></author></analytic><series><title level="j">The European respiratory journal</title><idno type="eISSN">1399-3003</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">The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. In many cases, however, the diagnosis remains difficult despite the array of sophisticated diagnostic tests. There is no "gold standard" reference test. Hence, a Task Force supported by the European Respiratory Society has developed this guideline to provide evidence-based recommendations on diagnostic testing, especially in light of new developments in such tests, and the need for robust diagnoses of patients who might enter randomised controlled trials of treatments. The guideline is based on pre-defined questions relevant for clinical care, a systematic review of the literature, and assessment of the evidence using the GRADE (Grading of Recommendations, Assessment, Development and Evaluation) approach. It focuses on clinical presentation, nasal nitric oxide, analysis of ciliary beat frequency and pattern by high-speed video-microscopy analysis, transmission electron microscopy, genotyping and immunofluorescence. It then used a modified Delphi survey to develop an algorithm for the use of diagnostic tests to definitively confirm and exclude the diagnosis of primary ciliary dyskinesia; and to provide advice when the diagnosis was not conclusive. Finally, this guideline proposes a set of quality criteria for future research on the validity of diagnostic methods for primary ciliary dyskinesia.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Autriche</li><li>Belgique</li><li>Canada</li><li>Danemark</li><li>Espagne</li><li>France</li><li>Italie</li><li>Royaume-Uni</li><li>République tchèque</li><li>Suisse</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Bohême centrale</li><li>Canton de Berne</li><li>Caroline du Nord</li><li>Catalogne</li><li>Grand Londres</li><li>Hovedstaden</li><li>Latium</li><li>Île-de-France</li></region><settlement><li>Barcelone</li><li>Berne</li><li>Chapel Hill (Caroline du Nord)</li><li>Copenhague</li><li>Londres</li><li>Paris</li><li>Prague</li><li>Rome</li></settlement><orgName><li>Université de Berne</li><li>Université de Caroline du Nord à Chapel Hill</li></orgName></list><tree><noCountry><name sortKey="Omran, Heymut" sort="Omran, Heymut" uniqKey="Omran H" first="Heymut" last="Omran">Heymut Omran</name><name sortKey="Titieni, Andrea" sort="Titieni, Andrea" uniqKey="Titieni A" first="Andrea" last="Titieni">Andrea Titieni</name><name sortKey="Werner, Claudius" sort="Werner, Claudius" uniqKey="Werner C" first="Claudius" last="Werner">Claudius Werner</name></noCountry><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="Behan, Laura" sort="Behan, Laura" uniqKey="Behan L" first="Laura" last="Behan">Laura Behan</name><name sortKey="Bush, Andrew" sort="Bush, Andrew" uniqKey="Bush A" first="Andrew" last="Bush">Andrew Bush</name><name sortKey="Collins, Samuel A" sort="Collins, Samuel A" uniqKey="Collins S" first="Samuel A" last="Collins">Samuel A. Collins</name><name sortKey="Hirst, Robert A" sort="Hirst, Robert A" uniqKey="Hirst R" first="Robert A" last="Hirst">Robert A. Hirst</name><name sortKey="Hogg, Claire" sort="Hogg, Claire" uniqKey="Hogg C" first="Claire" last="Hogg">Claire Hogg</name><name sortKey="Redfern, Beatrice" sort="Redfern, Beatrice" uniqKey="Redfern B" first="Beatrice" last="Redfern">Beatrice Redfern</name><name sortKey="Shoemark, Amelia" sort="Shoemark, Amelia" uniqKey="Shoemark A" first="Amelia" last="Shoemark">Amelia Shoemark</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="Italie"><noRegion><name sortKey="Barbato, Angelo" sort="Barbato, Angelo" uniqKey="Barbato A" first="Angelo" last="Barbato">Angelo Barbato</name></noRegion><name sortKey="Midulla, Fabio" sort="Midulla, Fabio" uniqKey="Midulla F" first="Fabio" last="Midulla">Fabio Midulla</name><name sortKey="Santamaria, Francesca" sort="Santamaria, Francesca" uniqKey="Santamaria F" first="Francesca" last="Santamaria">Francesca Santamaria</name><name sortKey="Snijders, Deborah" sort="Snijders, Deborah" uniqKey="Snijders D" first="Deborah" last="Snijders">Deborah Snijders</name></country><country name="Suisse"><region name="Canton de Berne"><name sortKey="Goutaki, Myrofora" sort="Goutaki, Myrofora" uniqKey="Goutaki M" first="Myrofora" last="Goutaki">Myrofora Goutaki</name></region><name sortKey="Kuehni, Claudia E" sort="Kuehni, Claudia E" uniqKey="Kuehni C" first="Claudia E" last="Kuehni">Claudia E. Kuehni</name><name sortKey="Latzin, Philipp" sort="Latzin, Philipp" uniqKey="Latzin P" first="Philipp" last="Latzin">Philipp Latzin</name><name sortKey="Rindlisbacher, Bernhard" sort="Rindlisbacher, Bernhard" uniqKey="Rindlisbacher B" first="Bernhard" last="Rindlisbacher">Bernhard Rindlisbacher</name><name sortKey="Tonia, Thomy" sort="Tonia, Thomy" uniqKey="Tonia T" first="Thomy" last="Tonia">Thomy Tonia</name></country><country name="Australie"><noRegion><name sortKey="Caudri, Daan" sort="Caudri, Daan" uniqKey="Caudri D" first="Daan" last="Caudri">Daan Caudri</name></noRegion></country><country name="Canada"><noRegion><name sortKey="Dell, Sharon" sort="Dell, Sharon" uniqKey="Dell S" first="Sharon" last="Dell">Sharon Dell</name></noRegion></country><country name="Autriche"><noRegion><name sortKey="Eber, Ernst" sort="Eber, Ernst" uniqKey="Eber E" first="Ernst" last="Eber">Ernst Eber</name></noRegion></country><country name="France"><region name="Île-de-France"><name sortKey="Escudier, Estelle" sort="Escudier, Estelle" uniqKey="Escudier E" first="Estelle" last="Escudier">Estelle Escudier</name></region><name sortKey="Legendre, Marie" sort="Legendre, Marie" uniqKey="Legendre M" first="Marie" last="Legendre">Marie Legendre</name><name sortKey="Papon, Jean Francois" sort="Papon, Jean Francois" uniqKey="Papon J" first="Jean-Francois" last="Papon">Jean-Francois Papon</name></country><country name="Belgique"><noRegion><name sortKey="Jorissen, Mark" sort="Jorissen, Mark" uniqKey="Jorissen M" first="Mark" last="Jorissen">Mark Jorissen</name></noRegion></country><country name="États-Unis"><region name="Caroline du Nord"><name sortKey="Leigh, Margaret W" sort="Leigh, Margaret W" uniqKey="Leigh M" first="Margaret W" last="Leigh">Margaret W. Leigh</name></region></country><country name="Danemark"><region name="Hovedstaden"><name sortKey="Nielsen, Kim G" sort="Nielsen, Kim G" uniqKey="Nielsen K" first="Kim G" last="Nielsen">Kim G. Nielsen</name></region></country><country name="République tchèque"><region name="Bohême centrale"><name sortKey="Pohunek, Petr" sort="Pohunek, Petr" uniqKey="Pohunek P" first="Petr" last="Pohunek">Petr Pohunek</name></region></country><country name="Espagne"><region name="Catalogne"><name sortKey="Rigau, David" sort="Rigau, David" uniqKey="Rigau D" first="David" last="Rigau">David Rigau</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.
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