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Title: Blau syndrome: Cross-sectional data from a multicentre study of clinical, radiological and functional outcomes
Authors: Rosé, Carlos D.
Pans, Steven
Casteels, Ingele
Anton, Jordi
Bader-Meunier, Brigitte
Brissaud, Philippe
Cimaz, Roland
Espada, Graciella
Fernandez-martin, Jorge
Hachulla, Eric
Harjacek, Miroslav
Khubchandani, Raju
Mackensen, Friederike
Merino, Rosa
Naranjo, Antonio 
Oliveira-Knupp, Sheila
Pajot, Christine
Russo, Ricardo
Thomée, Caroline
Vastert, Sebastiaan
Wulffraat, Nico
Arostegui, Juan I.
Foley, Kevin P.
Bertin, John
Wouters, Carine H.
UNESCO Clasification: 32 Ciencias médicas
3201 Ciencias clínicas
320509 Reumatología
Keywords: Blau syndrome
Issue Date: 2015
Journal: Rheumatology 
Abstract: Objective. To report baseline articular, functional and ocular findings of the first international prospective cohort study of Blau syndrome (BS). Methods. Three-year, multicentre, observational study on articular, functional (HAQ, Childhood HAQ and VAS global and pain), ophthalmological, therapeutic and radiological data in BS patients. Results. Baseline data on the first 31 recruited patients (12 females and 19 males) from 18 centres in 11 countries are presented. Of the 31 patients, 11 carried the p.R334W NOD2 mutation, 9 the p.R334Q and 11 various other NOD2 missense mutations; 20 patients were sporadic and 11 from five BS pedigrees. Median disease duration was 12.8 years (1.1–57). Arthritis, documented in all but one patient, was oligoarticular in 7, polyarticular in 23. The median active joint count was 21. Functional capacity was normal in 41%, mildly impaired in 31% and moderate–severe in 28% of patients. The most frequently involved joints at presentation were wrists, ankles, knees and PIPs. On radiographs, a symmetrical non-erosive arthropathy was shown. Previously unknown dysplastic bony changes were found in two-thirds of patients. Ocular disease was documented in 25 of 31 patients, with vitreous inflammation in 64% and moderate–severe visual loss in 33%. Expanded manifestations (visceral, vascular) beyond the classic clinical triad were seen in 52%. Conclusion. BS is associated with severe ocular and articular morbidity. Visceral involvement is common and may be life-threatening. Bone dysplastic changes may show diagnostic value and suggest a previously unknown role of NOD2 in bone morphogenesis. BS is resistant to current drugs, suggesting the need for novel targeted therapies.
ISSN: 1462-0324
DOI: 10.1093/rheumatology/keu437
Source: Rheumatology (United Kingdom)[ISSN 1462-0324],v. 54(6) ), p. 1008-1016 (Junio 2015)
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