Phenotypes of organ involvement in sarcoidosis
Jazyk angličtina Země Anglie, Velká Británie Médium electronic-print
Typ dokumentu časopisecké články, multicentrická studie, práce podpořená grantem
PubMed
29371378
DOI
10.1183/13993003.00991-2017
PII: 51/1/1700991
Knihovny.cz E-zdroje
- MeSH
- akutní nemoc MeSH
- běloši MeSH
- břicho MeSH
- dospělí MeSH
- fenotyp * MeSH
- genotyp MeSH
- kožní nemoci patofyziologie MeSH
- kůže patofyziologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- lymfatické uzliny patofyziologie MeSH
- nemoci kloubů patofyziologie MeSH
- oči patofyziologie MeSH
- oční nemoci patofyziologie MeSH
- plíce patofyziologie MeSH
- plicní nemoci patofyziologie MeSH
- sarkoidóza diagnóza patofyziologie MeSH
- senioři MeSH
- terciární zdravotní péče MeSH
- usilovný výdechový objem MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Evropa MeSH
Sarcoidosis is a highly variable, systemic granulomatous disease of hitherto unknown aetiology. The GenPhenReSa (Genotype-Phenotype Relationship in Sarcoidosis) project represents a European multicentre study to investigate the influence of genotype on disease phenotypes in sarcoidosis.The baseline phenotype module of GenPhenReSa comprised 2163 Caucasian patients with sarcoidosis who were phenotyped at 31 study centres according to a standardised protocol.From this module, we found that patients with acute onset were mainly female, young and of Scadding type I or II. Female patients showed a significantly higher frequency of eye and skin involvement, and complained more of fatigue. Based on multidimensional correspondence analysis and subsequent cluster analysis, patients could be clearly stratified into five distinct, yet undescribed, subgroups according to predominant organ involvement: 1) abdominal organ involvement, 2) ocular-cardiac-cutaneous-central nervous system disease involvement, 3) musculoskeletal-cutaneous involvement, 4) pulmonary and intrathoracic lymph node involvement, and 5) extrapulmonary involvement.These five new clinical phenotypes will be useful to recruit homogenous cohorts in future biomedical studies.
1st Faculty of Medicine Charles University Prague Czech Republic
Aintree University Hospital Liverpool UK
Dept of Haematology and Oncology University Medical Centre Freiburg Germany
Dept of Internal Medicine Christian Albrechts Universität Kiel Germany
Dept of Pneumology Hannover Medical School Hannover Germany
Dept of Pneumology University Hospital Leipzig Germany
Dept of Pneumology University Medical Centre Faculty of Medicine Freiburg Germany
Dept of Pneumonology Oncology and Allergology Medical University of Lublin Lublin Poland
Dept of Pulmonology Medical University of Gdansk Gdansk Poland
Evangelische Lungenklinik Berlin Germany
Faculty of Medicine and Dentistry Palacký University Olomouc Czech Republic
Hospital Berlin Havelhöhe Berlin Germany
Institute of Clinical Molecular Biology Christian Albrechts Universität Kiel Germany
Institute of Medical Informatics and Statistics Christian Albrechts Universität Kiel Germany
Medical Hospital Research Center Borstel Borstel Germany
National Koranyi Institute Budapest Hungary
Oxford Sarcoidosis Service Oxford University Hospitals NHS Foundation Trust Oxford UK
Popgen Biobank and Institute of Epidemiology Christian Albrechts Universität Kiel Germany
Prague General Hospital Charles University Prague Czech Republic
Private Practice Neuruppin Germany
Pulmonology Dept Academic Medical Center Amsterdam Amsterdam The Netherlands
Pulmonology Unit Foundation IRCCS Policlinico San Matteo Pavia Italy
Service de Pneumologie Groupe Hospitalier Avicenne Jean Verdier René Muret Bobigny France
St Vincent's University Hospital Dublin Ireland
Thomayer Hospital Prague Czech Republic
University College Dublin Dublin Ireland
University Hospital Bonn Germany
University Hospital Bristol UK
University Hospital Giessen Germany
University Hospital Jordanovac Zagreb Croatia
University Hospital Leuven Belgium
University Hospital Lille France
University Hospital of Lung Diseases Clinical Centre of Serbia Belgrade Serbia
University Hospital Olomouc Olomouc Czech Republic
University Hospital Regensburg Germany
Citace poskytuje Crossref.org
Genetic and geographic influence on phenotypic variation in European sarcoidosis patients
DRKS
DRKS00000045
