Phenotypes of organ involvement in sarcoidosis

被引：155

作者：

Schupp, Jonas Christian ^{[1
]}

Freitag-Wolf, Sandra ^{[2
]}

Bargagli, Elena ^{[3
]}

Mihailovic-Vucinic, Violeta ^{[4
]}

Rottoli, Paola ^{[3
]}

Grubanovic, Aleksandar ^{[1
]}

Mueller, Annegret ^{[1
,5
]}

Jochens, Arne ^{[2
]}

Tittmann, Lukas ^{[6
,7
]}

Schnerch, Jasmin ^{[1
,8
]}

Olivieri, Carmela ^{[3
]}

Fischer, Annegret ^{[9
]}

Jovanovic, Dragana ^{[4
]}

Filipovic, Snezana ^{[4
]}

Videnovic-Ivanovic, Jelica ^{[4
]}

Bresser, Paul ^{[10
]}

Jonkers, Rene ^{[10
]}

O'Reilly, Kate ^{[11
]}

Ho, Ling-Pei ^{[12
]}

Gaede, Karoline I. ^{[13
,14
,15
]}

Zabel, Peter ^{[13
,14
,15
]}

Dubaniewicz, Anna ^{[16
]}

Marshall, Ben ^{[11
]}

Kieszko, Robert ^{[17
]}

Milanowski, Janusz ^{[17
]}

Guenther, Andreas ^{[18
]}

Weihrich, Anette

Petrek, Martin ^{[19
,20
]}

Kolek, Vitezslav ^{[19
,20
]}

Keane, Michael P. ^{[21
,22
]}

O'Beirne, Sarah ^{[21
,22
]}

Donnelly, Seamas ^{[21
,22
]}

Haraldsdottir, Sigridur Olina ^{[23
]}

Jorundsdottir, Kristin B. ^{[23
]}

Costabel, Ulrich ^{[24
]}

Bonella, Francesco ^{[24
]}

Wallaert, Benoit ^{[25
]}

Grah, Christian ^{[26
]}

Peros-Golubicic, Tatjana ^{[27
]}

Luisetti, Mauritio ^{[28
]}

Kadija, Zamir ^{[28
]}

Pabst, Stefan ^{[29
]}

Grohe, Christian ^{[30
]}

Strausz, Janos ^{[31
]}

Vasakova, Martina ^{[32
,33
]}

Sterclova, Martina ^{[32
,33
]}

Millar, Ann ^{[34
]}

Homolka, Jiri ^{[35
]}

Slovakova, Alena ^{[35
]}

Kendrick, Yvonne ^{[12
]}

机构：

[1] Univ Med Ctr, Dept Pneumol, Fac Med, Freiburg, Germany

[2] Univ Kiel, Inst Med Informat & Stat, Kiel, Germany

[3] Siena Univ, AOUS Med & Surg Sci & Neurosci Dept, Resp Dis & Lung Transplant Unit, Siena, Italy

[4] Univ Hosp Lung Dis, Clin Ctr Serbia, Belgrade, Serbia

[5] Univ Hosp, Dept Cardiol Pneumol Angiol & Intens Care Med, Aachen, Germany

[6] Univ Kiel, Popgen Biobank, Kiel, Germany

[7] Univ Kiel, Inst Epidemiol, Kiel, Germany

[8] Univ Med Ctr, Dept Haematol & Oncol, Freiburg, Germany

[9] Univ Kiel, Inst Clin Mol Biol, Kiel, Germany

[10] Acad Med Ctr Amsterdam, Dept Pulmonol, Amsterdam, Netherlands

[11] Univ Hosp, Southampton, Hants, England

[12] Oxford Univ Hosp NHS Fdn Trust, Oxford Sarcoidosis Serv, Oxford, England

[13] Res Ctr Borstel, Med Hosp, Borstel, Germany

[14] Airway Res Ctr North, Leibniz Ctr Med & Biosci, Borstel, Germany

[15] German Ctr Lung Res, Borstel, Germany

[16] Med Univ Gdansk, Dept Pulmonol, Gdansk, Poland

[17] Med Univ Lublin, Dept Pneumonol Oncol & Allergol, Lublin, Poland

[18] Univ Hosp, Giessen, Germany

[19] Palacky Univ, Fac Med & Dent, Olomouc, Czech Republic

[20] Univ Hosp Olomouc, Olomouc, Czech Republic

[21] Univ Coll Dublin, Dublin, Ireland

[22] St Vincents Univ Hosp, Dublin, Ireland

[23] Univ Hosp, Reykjavik, Iceland

[24] Univ Klinikum Essen gGmbH, Westdeutsches Lungenzentrum, Ruhrlandklin, Univ Klin Essen, Essen, Germany

[25] Univ Hosp, Lille, France

[26] Hosp Berlin Havelhohe, Berlin, Germany

[27] Univ Hosp Jordanovac, Zagreb, Croatia

[28] Fdn IRCCS Policlin San Matteo, Pulmonol Unit, Pavia, Italy

[29] Univ Hosp, Bonn, Germany

[30] Evangel Lungenklin, Berlin, Germany

[31] Natl Koranyi Inst, Budapest, Hungary

[32] Thomayer Hosp, Prague, Czech Republic

[33] Charles Univ Prague, Fac Med 1, Prague, Czech Republic

[34] Univ Hosp, Bristol, Avon, England

[35] Charles Univ Prague, Prague Gen Hosp, Prague, Czech Republic

[36] Univ Hosp, Leuven, Belgium

[37] Aintree Univ Hosp NHS Fdn Trust, Liverpool, Merseyside, England

[38] Univ Hosp, Regensburg, Germany

[39] Grp Hosp Avicenne Jean Verdier Rene Muret, Serv Pneumol, Bobigny, France

[40] GB Morgagni L Pierantoni Hosp, Azienda USL Romagna, Dept Thorac Dis, Pulm Unit, Forli, Italy

[41] Univ Hosp, Dept Pneumol, Leipzig, Germany

[42] Hannover Med Sch, Dept Pneumol, Hannover, Germany

[43] Univ Kiel, Dept Internal Med, Kiel, Germany

来源：

EUROPEAN RESPIRATORY JOURNAL | 2018年 / 51卷 / 01期

关键词：

INFLAMMATORY-BOWEL-DISEASE; EPIDEMIOLOGY; RISK; PREVALENCE;

D O I：

10.1183/13993003.00991-2017

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

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.

引用

页数：11

共 50 条

[21] Sarcoidosis with Multiple Organ Involvement Associated with Necrotizing Crescentic Glomerulonephritis
Al-Hwiesh, Abdullah K.
Abdul-Rahman, Ibrahiem Saeed
Alhwiesh, Amani
Al-Oudah, Nadia
Alratroo, Jumana Abdulwahab
Al-Oudah, Nahad
Al-Muhanna, Fahd A.
Alsharani, Husain
Ibrahim, Eman Fathi
Al-Durayash, Ibrahim
Al-Mubark, Abdulhadi Jawad
SAUDI JOURNAL OF KIDNEY DISEASES AND TRANSPLANTATION, 2018, 29 (04) : 979 - 984
[22] Sarcoidosis presenting with severe hypercalcemia and multi organ involvement.
Napoli, N
Armamento-Villareal, R
JOURNAL OF BONE AND MINERAL RESEARCH, 2003, 18 : S418 - S418
[23] Multi-organ involvement in non-pulmonary sarcoidosis
Vilchez-Oya, Francisco
Meraz-Ostiz, Juan Antonio
Carrion-Barbera, Irene
Gonzalez-Farre, Monica
Carrion, Jose Antonio
Salman-Monte, Tarek Carlos
REUMATOLOGIA CLINICA, 2022, 18 (05): : 309 - 311
[24] Impact of Organ Involvement on Quality of Life in Sarcoidosis: Results from the Registry for Advanced Sarcoidosis (ReAS)
Tully, T.
Birring, S. S.
Judson, M. A.
Lower, E. E.
Baughman, R. P.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2018, 197
[25] Extrapulmonary Sarcoidosis With Multi-Organ Involvement Presenting Primarily as Hypercalcemia
Maria, Inna Mikaella P. Sta.
Tullio, Julia
Mahalingam, Vasudevan
Abukhaled, Jamal
Garlapaty, Vamshi
CUREUS JOURNAL OF MEDICAL SCIENCE, 2023, 15 (01)
[26] MicroRNAs in Fabry disease: Distinguishing between phenotypes and correlations with organ involvement
Aguiar, Patricio
Costa, Marina C.
Azevedo, Olga
Fiuza, Manuela
Marino, Jacira
Ducla Soares, Jose Luis
Hughes, Derralynn
Enguita, Francisco
MOLECULAR GENETICS AND METABOLISM, 2019, 126 (02) : S20 - S21
[27] Clinical phenotypes in sarcoidosis
Pereira, Carlos A. C.
Dornfeld, Marina C.
Baughman, Robert
Judson, Marc A.
CURRENT OPINION IN PULMONARY MEDICINE, 2014, 20 (05) : 496 - 502
[28] Self Reported Organ Involvement in Sarcoidosis: Results of a Multi-National Registry
Baughman, R. P.
Culver, D. A.
Judson, M. A.
Gerke, A. K.
Maier, L. A.
Spitzer, G.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2018, 197
[29] Multidimensional tracking of phenotypes and organ involvement in a complete nationwide systemic sclerosis cohort
Fretheim, Havard
Halse, Anne-Kristine
Seip, Marit
Bitter, Helle
Wallenius, Marianne
Garen, Torhild
Salberg, Anne
Brunborg, Cathrine
Midtvedt, Oyvind
Molberg, Oyvind
Hoffmann-Vold, Anna-Maria
RHEUMATOLOGY, 2020, 59 (10) : 2920 - 2929
[30] Whole-body magnetic resonance imaging in sarcoidosis to assess extrapulmonary organ involvement
Hostettler, Katrin
Studler, Ueli
Bratu, Vlad
Fischmann, Arne
Tamm, Michael
EUROPEAN RESPIRATORY JOURNAL, 2012, 40

← 1 2 3 4 5 →